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
C10orf47	254427	broad.mit.edu	36	10	11948655	11948655	+	Silent	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:11948655G>A	uc001ikx.1	+	c.258G>A	c.(256-258)GTG>GTA	p.V86V		NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	86										central_nervous_system(1)	1														0.714286	109.902329	112.204739	40	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	11948655	11948655	1642	10	G	A	A	48	48	C10orf47	A	2	2
PPYR1	5540	broad.mit.edu	36	10	46506814	46506814	+	Missense_Mutation	SNP	T	A	A			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46506814T>A	uc001jee.1	+	c.25T>A	c.(25-27)TTG>ATG	p.L9M	ANXA8_uc001jed.2_Intron|PPYR1_uc009xna.1_Missense_Mutation_p.L9M|PPYR1_uc009xnb.1_Missense_Mutation_p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	9	Extracellular (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.292683	113.027614	119.344182	48	116	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46506814	46506814	12852	10	T	A	A	56	56	PPYR1	A	4	4
PPYR1	5540	broad.mit.edu	36	10	46507743	46507743	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46507743C>T	uc001jee.1	+	c.954C>T	c.(952-954)AAC>AAT	p.N318N	ANXA8_uc001jed.2_Intron|PPYR1_uc009xna.1_Silent_p.N318N|PPYR1_uc009xnb.1_Silent_p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	318	Helical; Name=7; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.288	87.740844	92.784056	36	89	CC		KEEP	---	---	---	---	capture			Silent	SNP	46507743	46507743	12852	10	C	T	T	18	18	PPYR1	T	2	2
KIAA0913	23053	broad.mit.edu	36	10	75223921	75223921	+	Missense_Mutation	SNP	C	G	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75223921C>G	uc001jve.1	+	c.2636C>G	c.(2635-2637)GCA>GGA	p.A879G	KIAA0913_uc009xrl.1_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.1_Missense_Mutation_p.A879G|KIAA0913_uc001jvg.1_Missense_Mutation_p.A554G|KIAA0913_uc001jvh.1_Non-coding_Transcript|KIAA0913_uc001jvi.1_Missense_Mutation_p.A302G|KIAA0913_uc001jvj.1_Missense_Mutation_p.A302G	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	879							zinc ion binding			breast(1)	1	Prostate(51;0.0112)													0.715596	292.296643	296.844805	78	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75223921	75223921	8507	10	C	G	G	25	25	KIAA0913	G	3	3
OR5I1	10798	broad.mit.edu	36	11	55460020	55460020	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55460020G>A	uc001nic.1	-	c.433C>T	c.(433-435)CGG>TGG	p.R145W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.427184	115.185232	115.660193	44	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55460020	55460020	11574	11	G	A	A	38	38	OR5I1	A	1	1
ZNF215	7762	broad.mit.edu	36	11	6933952	6933952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6933952C>T	uc001mey.1	+	c.1168C>T	c.(1168-1170)CGA>TGA	p.R390*	ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	390	C2H2-type 1.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.369427	165.011286	167.362615	58	99	CC		KEEP	---	---	---	---	capture		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	Nonsense_Mutation	SNP	6933952	6933952	18362	11	C	T	T	23	23	ZNF215	T	5	1
OR5P2	120065	broad.mit.edu	36	11	7774767	7774767	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7774767G>A	uc001mfp.1	-	c.299C>T	c.(298-300)GCG>GTG	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3														0.424561	315.193141	316.613909	121	164	GG		KEEP	---	---	---	---	capture		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	7774767	7774767	11588	11	G	A	A	38	38	OR5P2	A	1	1
FGD4	121512	broad.mit.edu	36	12	32654978	32654978	+	Silent	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32654978A>G	uc001rkz.1	+	c.1134A>G	c.(1132-1134)AAA>AAG	p.K378K	FGD4_uc001rky.1_Silent_p.K130K|FGD4_uc001rla.1_Silent_p.K34K|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	378	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.380952	136.676221	137.980992	40	65	AA		KEEP	---	---	---	---	capture			Silent	SNP	32654978	32654978	6072	12	A	G	G	4	4	FGD4	G	4	4
KRT75	9119	broad.mit.edu	36	12	51104735	51104735	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51104735C>T	uc001saj.2	-	c.1489G>A	c.(1489-1491)GGT>AGT	p.G497S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	497	Tail.					keratin filament	structural molecule activity				0														0.144444	27.174643	49.094206	26	154	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.192)	Missense_Mutation	SNP	51104735	51104735	8803	12	C	T	T	23	23	KRT75	T	1	1
KRT6B	3854	broad.mit.edu	36	12	51127839	51127839	+	Missense_Mutation	SNP	C	T	T	rs60627726	unknown	TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51127839C>T	uc001sak.1	-	c.1414G>A	c.(1414-1416)GAG>AAG	p.E472K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	472	Rod.|Coil 2.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2														0.369458	199.055765	202.102047	75	128	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.083)	Missense_Mutation	SNP	51127839	51127839	8796	12	C	T	T	31	31	KRT6B	T	1	1
C12orf12	196477	broad.mit.edu	36	12	89872450	89872450	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89872450C>T	uc001tbj.1	-	c.201G>A	c.(199-201)CCG>CCA	p.P67P		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	67										central_nervous_system(1)|pancreas(1)	2														0.523077	94.331203	94.36037	34	31	CC		KEEP	---	---	---	---	capture			Silent	SNP	89872450	89872450	1720	12	C	T	T	31	31	C12orf12	T	1	1
ANO4	121601	broad.mit.edu	36	12	99819715	99819715	+	Silent	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99819715A>G	uc001thx.1	+	c.21A>G	c.(19-21)GGA>GGG	p.G7G	ANO4_uc001thw.1_Silent_p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	7	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.454545	316.34208	316.696503	90	108	AA		KEEP	---	---	---	---	capture			Silent	SNP	99819715	99819715	707	12	A	G	G	9	9	ANO4	G	4	4
NALCN	259232	broad.mit.edu	36	13	100505745	100505745	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:100505745G>A	uc001vox.1	-	c.5120C>T	c.(5119-5121)ACT>ATT	p.T1707I		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1707	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.412104	432.247644	434.591686	143	204	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100505745	100505745	10544	13	G	A	A	36	36	NALCN	A	2	2
NBEA	26960	broad.mit.edu	36	13	35022652	35022652	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35022652G>A	uc001uvb.1	+	c.6624G>A	c.(6622-6624)ATG>ATA	p.M2208I	NBEA_uc010abi.1_Missense_Mutation_p.M864I|NBEA_uc010abj.1_Missense_Mutation_p.M1I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2208						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)												0.135922	16.180059	29.409834	14	89	GG		KEEP	---	---	---	---	capture		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	Missense_Mutation	SNP	35022652	35022652	10583	13	G	A	A	48	48	NBEA	A	2	2
SLITRK1	114798	broad.mit.edu	36	13	83353094	83353094	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:83353094G>C	uc001vlk.1	-	c.550C>G	c.(550-552)CTC>GTC	p.L184V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein	184	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)												0.40553	272.866225	274.582157	88	129	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.07)	Missense_Mutation	SNP	83353094	83353094	15240	13	G	C	C	35	35	SLITRK1	C	3	3
OR4M1	441670	broad.mit.edu	36	14	19318686	19318686	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19318686G>A	uc001vwf.1	+	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)													0.200237	294.185693	364.699186	169	675	GG		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Missense_Mutation	SNP	19318686	19318686	11485	14	G	A	A	38	38	OR4M1	A	1	1
SUPT16H	11198	broad.mit.edu	36	14	20896400	20896400	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20896400C>T	uc001wao.1	-	c.2328G>A	c.(2326-2328)CTG>CTA	p.L776L	SUPT16H_uc001wan.1_5'UTR	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	776					DNA repair|DNA replication|nucleosome disassembly|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding|positive transcription elongation factor activity				0	all_cancers(95;0.00115)													0.431579	110.450921	110.840368	41	54	CC		KEEP	---	---	---	---	capture	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	Silent	SNP	20896400	20896400	15916	14	C	T	T	29	29	SUPT16H	T	2	2
CTSG	1511	broad.mit.edu	36	14	24114406	24114406	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:24114406C>T	uc001wpq.1	-	c.108G>A	c.(106-108)GCG>GCA	p.A36A		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	36	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2														0.405405	350.23297	352.842689	135	198	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0269)	Silent	SNP	24114406	24114406	4194	14	C	T	T	19	19	CTSG	T	1	1
COMMD4	54939	broad.mit.edu	36	15	73417770	73417770	+	Missense_Mutation	SNP	C	G	G			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73417770C>G	uc002azy.1	+	c.97C>G	c.(97-99)CTC>GTC	p.L33V	COMMD4_uc002azz.1_Missense_Mutation_p.L33V|COMMD4_uc002baa.1_Missense_Mutation_p.L33V	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	33						cytoplasm	protein binding				0														0.6	7.323046	7.36628	3	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73417770	73417770	3856	15	C	G	G	28	28	COMMD4	G	3	3
ANPEP	290	broad.mit.edu	36	15	88149343	88149343	+	Nonsense_Mutation	SNP	G	C	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88149343G>C	uc002bop.2	-	c.867C>G	c.(865-867)TAC>TAG	p.Y289*		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	289	Extracellular.|Interaction with HCoV-229E.|Metalloprotease.			DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.	angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)				Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.478571	460.108957	460.221242	134	146	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Nonsense_Mutation	SNP	88149343	88149343	718	15	G	C	C	40	40	ANPEP	C	5	3
TPSD1	23430	broad.mit.edu	36	16	1246609	1246609	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1246609C>T	uc002clb.1	+	c.174C>T	c.(172-174)CGC>CGT	p.R58R	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.39375	155.947841	157.540251	63	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	1246609	1246609	16969	16	C	T	T	27	27	TPSD1	T	1	1
RBBP6	5930	broad.mit.edu	36	16	24459610	24459610	+	Silent	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24459610A>G	uc002dmh.1	+	c.162A>G	c.(160-162)AAA>AAG	p.K54K	RBBP6_uc002dmg.1_Silent_p.K54K|RBBP6_uc002dmi.1_Silent_p.K54K|RBBP6_uc010bxr.1_Silent_p.K54K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	54	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4														0.724638	188.282293	191.41894	50	19	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0518)	Silent	SNP	24459610	24459610	13564	16	A	G	G	3	3	RBBP6	G	4	4
MYO15A	51168	broad.mit.edu	36	17	17988614	17988614	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17988614G>A	uc010cpt.1	+	c.6256G>A	c.(6256-6258)GTG>ATG	p.V2086M	MYO15A_uc010cpu.1_Missense_Mutation_p.V2086M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2086	Tail.|MyTH4 1.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.410959	155.987077	156.992737	60	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17988614	17988614	10458	17	G	A	A	40	40	MYO15A	A	1	1
OR1A1	8383	broad.mit.edu	36	17	3065960	3065960	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3065960C>T	uc002fve.1	+	c.296C>T	c.(295-297)ACG>ATG	p.T99M		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.511737	300.25479	300.279935	109	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3065960	3065960	11355	17	C	T	T	19	19	OR1A1	T	1	1
GPR179	440435	broad.mit.edu	36	17	33738513	33738513	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:33738513C>T	uc002hpz.1	-	c.4465G>A	c.(4465-4467)GGG>AGG	p.G1489R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1	1489	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)												0.390533	390.015389	393.565946	132	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33738513	33738513	6949	17	C	T	T	22	22	GPR179	T	2	2
GAA	2548	broad.mit.edu	36	17	75697204	75697204	+	Silent	SNP	G	T	T			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75697204G>T	uc002jxo.1	+	c.1308G>T	c.(1306-1308)CGG>CGT	p.R436R	GAA_uc002jxp.1_Silent_p.R436R|GAA_uc002jxq.1_Silent_p.R436R	NM_001079803	NP_001073272	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	436					cardiac muscle contraction|diaphragm contraction|glucose metabolic process|glycogen catabolic process|lysosome organization|maltose metabolic process|sucrose metabolic process|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)				Acarbose(DB00284)									0.538462	61.373964	61.424223	21	18	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Silent	SNP	75697204	75697204	6398	17	G	T	T	42	42	GAA	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7620110	7620110	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7620110G>A	uc002giu.1	+	c.4865G>A	c.(4864-4866)CGG>CAG	p.R1622Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1622	Stem (By similarity).				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)												0.488636	261.382044	261.399992	86	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7620110	7620110	4785	17	G	A	A	39	39	DNAH2	A	1	1
CEP76	79959	broad.mit.edu	36	18	12689056	12689056	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:12689056G>A	uc002kri.1	-	c.442C>T	c.(442-444)CGT>TGT	p.R148C	PSMG2_uc002krg.1_Intron|CEP76_uc002krh.2_5'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0														0.353659	146.085178	149.188265	58	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12689056	12689056	3394	18	G	A	A	37	37	CEP76	A	1	1
MC5R	4161	broad.mit.edu	36	18	13816367	13816367	+	Silent	SNP	G	T	T			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13816367G>T	uc002kso.1	+	c.603G>T	c.(601-603)CTG>CTT	p.L201L		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	201	Helical; Name=5; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.401596	791.600612	797.992203	302	450	GG		KEEP	---	---	---	---	capture			Silent	SNP	13816367	13816367	9756	18	G	T	T	47	47	MC5R	T	3	3
LINGO3	645191	broad.mit.edu	36	19	2241767	2241767	+	Missense_Mutation	SNP	T	G	G			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2241767T>G	uc010dsx.1	-	c.1009A>C	c.(1009-1011)ACC>CCC	p.T337P	SPPL2B_uc010dsw.1_Intron	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	337	Extracellular (Potential).|LRR 11.					integral to membrane					0														0.2	7.389512	9.064221	4	16	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2241767	2241767	9143	19	T	G	G	59	59	LINGO3	G	4	4
MLL4	9757	broad.mit.edu	36	19	40911802	40911802	+	Silent	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40911802G>A	uc010eei.1	+	c.4764G>A	c.(4762-4764)GGG>GGA	p.G1588G		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1588					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)													0.409449	156.275601	157.185485	52	75	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Silent	SNP	40911802	40911802	10013	19	G	A	A	43	43	MLL4	A	2	2
NLRP12	91662	broad.mit.edu	36	19	59005936	59005936	+	Silent	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59005936G>A	uc002qcj.2	-	c.789C>T	c.(787-789)AGC>AGT	p.S263S	NLRP12_uc010eqw.1_5'Flank|NLRP12_uc002qch.2_Silent_p.S263S|NLRP12_uc002qci.2_Silent_p.S263S|NLRP12_uc002qck.2_Non-coding_Transcript|NLRP12_uc010eqx.1_Silent_p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	263	NACHT.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.356322	76.891228	78.477259	31	56	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Silent	SNP	59005936	59005936	10877	19	G	A	A	46	46	NLRP12	A	2	2
TNFSF9	8744	broad.mit.edu	36	19	6486064	6486064	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6486064C>T	uc002mfh.1	+	c.752C>T	c.(751-753)CCG>CTG	p.P251L		NM_003811	NP_003802	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily,	251	Extracellular (Potential).				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1														0.340426	41.58573	42.643499	16	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6486064	6486064	16853	19	C	T	T	23	23	TNFSF9	T	1	1
MUC16	94025	broad.mit.edu	36	19	8929085	8929085	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8929085G>A	uc002mkp.1	-	c.19361C>T	c.(19360-19362)GCG>GTG	p.A6454V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6456	Thr-rich.|Extracellular (Potential).				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														0.443836	424.264626	425.271034	162	203	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8929085	8929085	10367	19	G	A	A	38	38	MUC16	A	1	1
NUP210L	91181	broad.mit.edu	36	1	152328682	152328682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328682G>A	uc001fdw.1	-	c.2200C>T	c.(2200-2202)CGA>TGA	p.R734*	NUP210L_uc009woq.1_5'UTR	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)													0.375	160.415997	162.390706	54	90	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		Nonsense_Mutation	SNP	152328682	152328682	11166	1	G	A	A	39	39	NUP210L	A	5	1
HSPA6	3310	broad.mit.edu	36	1	159761230	159761230	+	Missense_Mutation	SNP	T	G	G			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159761230T>G	uc001gap.1	+	c.158T>G	c.(157-159)GTC>GGC	p.V53G	HSPA6_uc001gaq.1_Missense_Mutation_p.V53G	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	53					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)													0.45	13.769167	13.836632	9	11	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159761230	159761230	7714	1	T	G	G	58	58	HSPA6	G	4	4
SELP	6403	broad.mit.edu	36	1	167829481	167829481	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167829481C>T	uc001ggi.2	-	c.2393G>A	c.(2392-2394)CGT>CAT	p.R798H	SELP_uc009wvr.1_Missense_Mutation_p.R797H|SELP_uc001ggh.2_Intron	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	798	Cytoplasmic (Potential).				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.443182	103.099495	103.348765	39	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167829481	167829481	14505	1	C	T	T	19	19	SELP	T	1	1
RYR2	6262	broad.mit.edu	36	1	236049006	236049006	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236049006C>T	uc001hyl.1	+	c.14481C>T	c.(14479-14481)ATC>ATT	p.I4827I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4827	Helical; Name=M9; (Potential).				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)												0.315789	105.695374	109.713538	42	91	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Silent	SNP	236049006	236049006	14249	1	C	T	T	31	31	RYR2	T	1	1
OR2T11	127077	broad.mit.edu	36	1	246856920	246856920	+	Silent	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246856920A>G	uc001ier.1	-	c.133T>C	c.(133-135)TTG>CTG	p.L45L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.403846	215.997914	217.257951	63	93	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Silent	SNP	246856920	246856920	11424	1	A	G	G	3	3	OR2T11	G	4	4
JPH2	57158	broad.mit.edu	36	20	42221972	42221972	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42221972G>C	uc002xli.1	-	c.869C>G	c.(868-870)ACC>AGC	p.T290S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	290	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)												0.5	71.856643	71.856643	21	21	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42221972	42221972	8265	20	G	C	C	44	44	JPH2	C	3	3
CDH22	64405	broad.mit.edu	36	20	44261471	44261471	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44261471G>A	uc002xrm.2	-	c.1421C>T	c.(1420-1422)GCG>GTG	p.A474V	CDH22_uc010ghk.1_Missense_Mutation_p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	474	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.413793	29.48937	29.678555	12	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44261471	44261471	3236	20	G	A	A	38	38	CDH22	A	1	1
USP16	10600	broad.mit.edu	36	21	29331602	29331602	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29331602G>A	uc002ymw.1	+	c.583G>A	c.(583-585)GTG>ATG	p.V195M	USP16_uc002ymy.1_Missense_Mutation_p.V195M|USP16_uc002ymx.1_Missense_Mutation_p.V194M	NM_001032410	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	195					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.46281	155.080007	155.226331	56	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29331602	29331602	17609	21	G	A	A	40	40	USP16	A	1	1
BID	637	broad.mit.edu	36	22	16606602	16606602	+	Missense_Mutation	SNP	T	G	G			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16606602T>G	uc002znc.1	-	c.328A>C	c.(328-330)AGC>CGC	p.S110R	BID_uc002znd.1_Missense_Mutation_p.S64R|BID_uc002zne.1_5'UTR|BID_uc010gra.1_Non-coding_Transcript|BID_uc002znf.1_Intron|BID_uc010grb.1_Missense_Mutation_p.S64R|BID_uc010grc.1_Intron	NM_197966	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 1	64					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)								1081				0.5	18.788817	18.788817	10	10	TT		KEEP	---	---	---	---	capture		Lung(27;0.0419)	Missense_Mutation	SNP	16606602	16606602	1455	22	T	G	G	55	55	BID	G	4	4
TUBGCP6	85378	broad.mit.edu	36	22	48999716	48999716	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48999716G>A	uc003bkb.1	-	c.4534C>T	c.(4534-4536)CAC>TAC	p.H1512Y	TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1512					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)												0.480769	62.354159	62.371647	25	27	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	Missense_Mutation	SNP	48999716	48999716	17325	22	G	A	A	46	46	TUBGCP6	A	2	2
SLC9A4	389015	broad.mit.edu	36	2	102462136	102462136	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102462136C>T	uc002tbz.2	+	c.663C>T	c.(661-663)AAC>AAT	p.N221N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	221	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.387097	61.083604	61.776475	24	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	102462136	102462136	15213	2	C	T	T	19	19	SLC9A4	T	1	1
VIL1	7429	broad.mit.edu	36	2	219003712	219003712	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219003712G>C	uc002via.1	+	c.969G>C	c.(967-969)CAG>CAC	p.Q323H	VIL1_uc002vib.1_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	323	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)												0.328671	150.779608	154.499421	47	96	GG		KEEP	---	---	---	---	capture		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219003712	219003712	17731	2	G	C	C	36	36	VIL1	C	3	3
THADA	63892	broad.mit.edu	36	2	43621900	43621900	+	Missense_Mutation	SNP	T	G	G			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43621900T>G	uc002rsw.2	-	c.3166A>C	c.(3166-3168)AGT>CGT	p.S1056R	THADA_uc010far.1_Missense_Mutation_p.S325R|THADA_uc002rsx.2_Missense_Mutation_p.S1056R|THADA_uc002rsy.2_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.2_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1056							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)												0.411471	491.29542	494.041567	165	236	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43621900	43621900	16368	2	T	G	G	56	56	THADA	G	4	4
SLC9A10	285335	broad.mit.edu	36	3	113381174	113381174	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113381174G>A	uc003dyu.1	-	c.2813C>T	c.(2812-2814)CCG>CTG	p.P938L	SLC9A10_uc010hqc.1_Missense_Mutation_p.P890L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	938	cNMP.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.371257	176.9021	179.335765	62	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113381174	113381174	15207	3	G	A	A	39	39	SLC9A10	A	1	1
FGD5	152273	broad.mit.edu	36	3	14836431	14836431	+	Silent	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14836431G>A	uc003bzc.1	+	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	283	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.473118	120.615699	120.670955	44	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	14836431	14836431	6073	3	G	A	A	39	39	FGD5	A	1	1
PIK3CA	5290	broad.mit.edu	36	3	180399570	180399570	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180399570G>A	uc003fjk.1	+	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88			R -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(26)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)					Colon(199;1504 1750 3362 26421 31210 32040)	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	p.R88Q(JHUEM1-Tumor)|p.R88Q(SNGM-Tumor)|p.R88Q(HT115-Tumor)|p.R88Q(SKUT1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.437788	262.68574	263.418481	95	122	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Missense_Mutation	SNP	180399570	180399570	12337	3	G	A	A	37	37	PIK3CA	A	1	1
MUC4	4585	broad.mit.edu	36	3	196969861	196969861	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196969861G>A	uc010hzt.1	-	c.14612C>T	c.(14611-14613)ACG>ATG	p.T4871M	MUC4_uc003fvo.1_Missense_Mutation_p.T763M|MUC4_uc003fvp.1_Missense_Mutation_p.T712M|MUC4_uc003fuz.1_Missense_Mutation_p.T597M|MUC4_uc003fva.1_Missense_Mutation_p.T479M|MUC4_uc003fvb.1_Missense_Mutation_p.T515M|MUC4_uc003fvd.1_Non-coding_Transcript|MUC4_uc003fve.1_Missense_Mutation_p.T515M|MUC4_uc003fvc.1_Non-coding_Transcript|MUC4_uc010hzr.1_Non-coding_Transcript|MUC4_uc003fvm.1_Missense_Mutation_p.T479M|MUC4_uc003fvg.1_Missense_Mutation_p.T563M|MUC4_uc003fvf.1_Non-coding_Transcript|MUC4_uc003fvh.1_Missense_Mutation_p.T563M|MUC4_uc010hzs.1_Missense_Mutation_p.T740M|MUC4_uc003fvi.1_Missense_Mutation_p.T479M|MUC4_uc003fvj.1_Missense_Mutation_p.T508M|MUC4_uc003fvk.1_Missense_Mutation_p.T688M|MUC4_uc003fvl.1_Missense_Mutation_p.T479M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1756					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.368932	90.190034	91.757025	38	65	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Missense_Mutation	SNP	196969861	196969861	10372	3	G	A	A	40	40	MUC4	A	1	1
TRANK1	9881	broad.mit.edu	36	3	36849406	36849406	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36849406C>T	uc003cgj.2	-	c.4890G>A	c.(4888-4890)TCG>TCA	p.S1630S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.516129	88.195254	88.209198	32	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	36849406	36849406	16998	3	C	T	T	31	31	TRANK1	T	1	1
ZNF167	55888	broad.mit.edu	36	3	44586917	44586917	+	Missense_Mutation	SNP	A	C	C			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44586917A>C	uc010hin.1	+	c.1311A>C	c.(1309-1311)AAA>AAC	p.K437N	ZNF167_uc003cnh.2_Missense_Mutation_p.K221N|ZNF167_uc003cni.1_Intron|ZNF167_uc010hio.1_Missense_Mutation_p.K286N|ZNF167_uc003cnj.1_Missense_Mutation_p.K437N|ZNF167_uc003cnk.1_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	437					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(121;907 1626 38429 48584 52774)								0.393617	123.361523	124.290572	37	57	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	Missense_Mutation	SNP	44586917	44586917	18332	3	A	C	C	2	2	ZNF167	C	4	4
AMT	275	broad.mit.edu	36	3	49430404	49430404	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49430404C>T	uc003cww.1	-	c.884G>A	c.(883-885)CGC>CAC	p.R295H	AMT_uc003cwy.1_Missense_Mutation_p.R247H|AMT_uc003cwx.2_Missense_Mutation_p.R295H	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase	295					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1					NADH(DB00157)|Tetrahydrofolic acid(DB00116)									0.395833	48.533032	48.982246	19	29	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Missense_Mutation	SNP	49430404	49430404	592	3	C	T	T	27	27	AMT	T	1	1
CACNA1D	776	broad.mit.edu	36	3	53506363	53506363	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53506363C>T	uc003dgu.2	+	c.212C>T	c.(211-213)ACC>ATC	p.T71I	CACNA1D_uc003dgv.2_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.2_Missense_Mutation_p.T71I	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	71	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7					Verapamil(DB00661)									0.342391	164.65873	168.655119	63	121	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Missense_Mutation	SNP	53506363	53506363	2657	3	C	T	T	18	18	CACNA1D	T	2	2
KDR	3791	broad.mit.edu	36	4	55655816	55655816	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55655816G>A	uc003has.1	-	c.2881C>T	c.(2881-2883)CGG>TGG	p.R961W	KDR_uc003hat.1_Missense_Mutation_p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III	961	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)				Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.397321	234.328066	236.392848	89	135	GG		KEEP	---	---	---	---	capture	Epithelial(7;0.189)		Missense_Mutation	SNP	55655816	55655816	8445	4	G	A	A	40	40	KDR	A	1	1
MFSD7	84179	broad.mit.edu	36	4	670077	670077	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:670077C>T	uc003gay.1	-	c.309G>A	c.(307-309)GCG>GCA	p.A103A	MFSD7_uc003gaw.1_5'Flank|MFSD7_uc003gax.1_Silent_p.A103A|MFSD7_uc003gaz.1_Intron|MFSD7_uc003gba.1_Intron|MFSD7_uc003gbb.1_Silent_p.A39A	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	103	Helical; (Potential).				transmembrane transport	integral to membrane					0														0.435294	94.939603	95.252923	37	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	670077	670077	9927	4	C	T	T	19	19	MFSD7	T	1	1
GAK	2580	broad.mit.edu	36	4	852325	852325	+	Splice_Site_SNP	SNP	A	C	C			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:852325A>C	uc003gbm.2	-	c.2395_splice	c.e20+1	p.E799_splice	GAK_uc010ibi.1_5'Flank|GAK_uc010ibj.1_Splice_Site_SNP|GAK_uc003gbl.2_Splice_Site_SNP_p.E663_splice|GAK_uc003gbn.2_Splice_Site_SNP_p.E720_splice|GAK_uc010ibk.1_Splice_Site_SNP_p.E693_splice	NM_005255	NP_005246			cyclin G associated kinase						cell cycle|protein phosphorylation	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)	3										679				0.307692	10.497207	10.924652	4	9	AA		KEEP	---	---	---	---	capture		Colorectal(103;0.219)	Splice_Site_SNP	SNP	852325	852325	6459	4	A	C	C	14	14	GAK	C	5	4
FBN2	2201	broad.mit.edu	36	5	127650945	127650945	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127650945C>T	uc003kuu.1	-	c.6834G>A	c.(6832-6834)ACG>ACA	p.T2278T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2278	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.393805	233.81507	236.048701	89	137	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Silent	SNP	127650945	127650945	5939	5	C	T	T	19	19	FBN2	T	1	1
SLC6A18	348932	broad.mit.edu	36	5	1278623	1278623	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1278623G>A	uc003jby.1	+	c.31G>A	c.(31-33)GCC>ACC	p.A11T		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	11	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)													0.428571	100.224863	100.625283	39	52	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1278623	1278623	15178	5	G	A	A	38	38	SLC6A18	A	1	1
GABRB2	2561	broad.mit.edu	36	5	160653854	160653854	+	Missense_Mutation	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160653854A>G	uc003lys.1	-	c.1351T>C	c.(1351-1353)TTT>CTT	p.F451L	GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L|GABRB2_uc010jiu.1_Missense_Mutation_p.F350L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	451	Cytoplasmic (Probable).				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)									0.352941	202.46344	205.699229	60	110	AA		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	160653854	160653854	6418	5	A	G	G	1	1	GABRB2	G	4	4
HEY2	23493	broad.mit.edu	36	6	126121973	126121973	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:126121973G>A	uc003qad.1	+	c.346G>A	c.(346-348)GCT>ACT	p.A116T		NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	116	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|Notch signaling pathway|organ morphogenesis	nucleus	DNA binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0														0.467626	173.951618	174.078853	65	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	Missense_Mutation	SNP	126121973	126121973	7362	6	G	A	A	38	38	HEY2	A	1	1
ZNF451	26036	broad.mit.edu	36	6	57121123	57121123	+	Missense_Mutation	SNP	A	G	G			TCGA-12-5301-01	TCGA-12-5301-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:57121123A>G	uc003pdm.1	+	c.2281A>G	c.(2281-2283)ACA>GCA	p.T761A	ZNF451_uc003pdk.1_Missense_Mutation_p.T761A|ZNF451_uc003pdl.2_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	761	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)													0.404762	116.139286	116.803751	34	50	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		Missense_Mutation	SNP	57121123	57121123	18515	6	A	G	G	2	2	ZNF451	G	4	4
C6orf221	154288	broad.mit.edu	36	6	74130089	74130089	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74130089C>T	uc003pgt.2	+	c.439C>T	c.(439-441)CGT>TGT	p.R147C		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	147											0														0.350877	94.761811	96.999384	40	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74130089	74130089	2460	6	C	T	T	27	27	C6orf221	T	1	1
JHDM1D	80853	broad.mit.edu	36	7	139479827	139479827	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139479827G>A	uc003vvm.1	-	c.379C>T	c.(379-381)CGC>TGC	p.R127C		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	127					midbrain development|oxidation-reduction process|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)													0.241803	125.494091	140.341343	59	185	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139479827	139479827	8252	7	G	A	A	40	40	JHDM1D	A	1	1
EPHB6	2051	broad.mit.edu	36	7	142278697	142278697	+	Missense_Mutation	SNP	T	A	A			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142278697T>A	uc003wbq.1	+	c.2939T>A	c.(2938-2940)CTG>CAG	p.L980Q	EPHB6_uc003wbr.1_Missense_Mutation_p.L980Q|EPHB6_uc003wbs.1_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.1_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.1_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.1_Missense_Mutation_p.L379Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	995	SAM.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.290323	111.127031	117.22554	45	110	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142278697	142278697	5371	7	T	A	A	55	55	EPHB6	A	4	4
EPHA1	2041	broad.mit.edu	36	7	142807013	142807013	+	Missense_Mutation	SNP	T	C	C			TCGA-12-5301-01	TCGA-12-5301-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142807013T>C	uc003wcz.1	-	c.688A>G	c.(688-690)ACC>GCC	p.T230A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1	230	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)								379				0.233333	10.097977	12.0668	7	23	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142807013	142807013	5358	7	T	C	C	58	58	EPHA1	C	4	4
CALCR	799	broad.mit.edu	36	7	92910906	92910906	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92910906C>T	uc003umv.1	-	c.850G>A	c.(850-852)GTG>ATG	p.V284M	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor	266	Cytoplasmic (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)									0.2625	145.324747	157.567687	63	177	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000244)		Missense_Mutation	SNP	92910906	92910906	2695	7	C	T	T	19	19	CALCR	T	1	1
ZNF618	114991	broad.mit.edu	36	9	115771255	115771255	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115771255C>T	uc004bid.1	+	c.71C>T	c.(70-72)GCG>GTG	p.A24V	ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.1_Missense_Mutation_p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.421222	336.466177	338.121574	131	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115771255	115771255	18637	9	C	T	T	27	27	ZNF618	T	1	1
DBH	1621	broad.mit.edu	36	9	135507196	135507196	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135507196G>A	uc004cel.1	+	c.1343G>A	c.(1342-1344)CGC>CAC	p.R448H		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta-hydroxylase precursor	448	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4					Dopamine(DB00988)|Vitamin C(DB00126)									0.459854	165.992459	166.186147	63	74	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Missense_Mutation	SNP	135507196	135507196	4421	9	G	A	A	38	38	DBH	A	1	1
SLC34A3	142680	broad.mit.edu	36	9	139247127	139247127	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139247127C>T	uc004cme.1	+	c.375C>T	c.(373-375)GGC>GGT	p.G125G	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.G125G|SLC34A3_uc004cmf.1_Silent_p.G125G	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	125	Helical; Name=M2; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)													0.564103	59.581338	59.729851	22	17	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	Silent	SNP	139247127	139247127	15066	9	C	T	T	27	27	SLC34A3	T	1	1
TMEM215	401498	broad.mit.edu	36	9	32774817	32774817	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32774817C>T	uc003zri.2	+	c.636C>T	c.(634-636)AAC>AAT	p.N212N	TMEM215_uc010mjl.1_Silent_p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	212						integral to membrane					0														0.369565	217.991536	221.4391	85	145	CC		KEEP	---	---	---	---	capture			Silent	SNP	32774817	32774817	16674	9	C	T	T	17	17	TMEM215	T	2	2
CCIN	881	broad.mit.edu	36	9	36160861	36160861	+	Silent	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36160861C>T	uc003zzb.2	+	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	454	Kelch 4.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)	1														0.446602	245.257078	245.770259	92	114	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Silent	SNP	36160861	36160861	3003	9	C	T	T	19	19	CCIN	T	1	1
GRHPR	9380	broad.mit.edu	36	9	37419744	37419744	+	Missense_Mutation	SNP	G	C	C	rs12002324	by-cluster,by-frequency,by-hapmap,by-1000genomes	TCGA-12-5301-01	TCGA-12-5301-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37419744G>C	uc003zzu.1	+	c.509G>C	c.(508-510)CGG>CCG	p.R170P	GRHPR_uc010mlv.1_Missense_Mutation_p.R90P|GRHPR_uc003zzt.1_Missense_Mutation_p.R90P|GRHPR_uc003zzv.1_Missense_Mutation_p.R27P|GRHPR_uc003zzw.1_Missense_Mutation_p.R27P	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	170					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process|oxidation-reduction process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding				0														0.423645	271.627839	272.632095	86	117	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00687)	Missense_Mutation	SNP	37419744	37419744	7044	9	G	C	C	39	39	GRHPR	C	3	3
FOXB2	442425	broad.mit.edu	36	9	78824752	78824752	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:78824752C>T	uc004ako.1	+	c.362C>T	c.(361-363)GCG>GTG	p.A121V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	121					brain development|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0														0.520833	68.169815	68.187714	25	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78824752	78824752	6235	9	C	T	T	27	27	FOXB2	T	1	1
F9	2158	broad.mit.edu	36	X	138471402	138471402	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-5301-01	TCGA-12-5301-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138471402C>T	uc004fas.1	+	c.892C>T	c.(892-894)CGA>TGA	p.R298*	F9_uc004fat.1_Nonsense_Mutation_p.R260*	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	298	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)									0.875	369.094715	387.769627	119	17	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	138471402	138471402	5548	23	C	T	T	31	31	F9	T	5	1
FBLN1	2192	broad.mit.edu	36	22	44323187	44323188	+	Frame_Shift_Ins	INS	-	CCAC	CCAC			TCGA-12-5301-01	TCGA-12-5301-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44323187_44323188insCCAC	uc010gzz.1	+	c.1586_1587insCCAC	c.(1585-1587)GGCfs	p.G529fs	FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgj.1_Frame_Shift_Ins_p.G491fs	NM_001996	NP_001987	P23142	FBLN1_HUMAN	fibulin 1 isoform C precursor	491	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.34			31	60				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	44323187	44323188	5934	22	-	CCAC	CCAC	42	42	FBLN1	CCAC	5	5
