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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CDC42BPB	9578	broad.mit.edu	37	14	103416864	103416864	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:103416864T>C	ENST00000361246.2	-	25	3536	c.3248A>G	c.(3247-3249)aAg>aGg	p.K1083R		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1083					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGAGGCCTCTTGGACTGCTC	0.612000													21	68					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233785159	233785159	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr2:233785159C>T	ENST00000264051.3	-	5	941	c.663G>A	c.(661-663)gaG>gaA	p.E221E	NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	221	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.E221E(3)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		cctcctcctcctcttcttctt	0.572000													3	98					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884776	39884776	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr22:39884776C>G	ENST00000341184.6	+	2	1639	c.1424C>G	c.(1423-1425)gCa>gGa	p.A475G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	475					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TACCCGCCTGCAGACCCCAGC	0.642000													4	19					0	0	1	0	0
SLN	6588	broad.mit.edu	37	11	107578641	107578641	+	Silent	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:107578641G>T	ENST00000531293.1	-	3	368	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	SLN_ENST00000305991.2_Silent_p.R6R|SLN_ENST00000525934.1_Silent_p.R6R			O00631	SARCO_HUMAN	sarcolipin	6					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity			large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		AACAGCTCCCGGGTGTTTATC	0.498000													31	80					2.80507e-11	3.25388e-11	1	1	0
ZNF626	199777	broad.mit.edu	37	19	20807934	20807934	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:20807934T>A	ENST00000601440.1	-	4	895	c.749A>T	c.(748-750)aAt>aTt	p.N250I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCCAGTATGATTTCTCTTATG	0.373000													13	80					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36057735	36057735	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:36057735C>T	ENST00000315571.5	+	2	150	c.129C>T	c.(127-129)atC>atT	p.I43I	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	43	LDL-receptor class A 1.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GACGGTGCATCCCGGGCGCCT	0.607000													54	123					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617480	77617480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:77617480C>T	ENST00000521891.2	+	2	1605	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A386V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A386V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A386V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	386						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGGAAGCGCGAGCACCTCG	0.532000										HNSCC(33;0.089)			5	94					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150097	51150097	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:51150097A>C	ENST00000342995.2	+	1	331	c.229A>C	c.(229-231)Att>Ctt	p.I77L						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCCGCCGCCATTTTCATCAC	0.632000													10	42					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84498364	84498364	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:84498364G>C	ENST00000372142.2	+	4	596	c.322G>C	c.(322-324)Gat>Cat	p.D108H	NRG3_ENST00000556918.1_Missense_Mutation_p.D159H|NRG3_ENST00000404576.2_Missense_Mutation_p.D133H|NRG3_ENST00000372141.2_Missense_Mutation_p.D329H|NRG3_ENST00000404547.1_Missense_Mutation_p.D329H	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	329	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.D108N(1)|p.D329N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTCCGTTGTGATCAATTTCT	0.393000													12	117					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913475	57913475	+	Silent	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:57913475C>A	ENST00000282878.4	+	2	199	c.30C>A	c.(28-30)gcC>gcA	p.A10A		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CACAGATGGCCTCTGCCCAAG	0.413000													23	48					3.5997e-14	4.38005e-14	1	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139122	90139122	+	RNA	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr2:90139122C>A	ENST00000492446.1	+	0	45																											TGAGGGTCCTCGCTCAGCTCC	0.532000													63	297					7.62596e-35	1.03665e-34	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69696589	69696589	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:69696589A>G	ENST00000265403.7	+	6	1606	c.1579A>G	c.(1579-1581)Agg>Ggg	p.R527G	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R443G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	527					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAAGGGAAAAAGGGATTAGTT	0.373000													3	106					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941169	37941169	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:37941169C>T	ENST00000373087.6	+	2	188	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	24					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AATTTGAGGACAGCCACAGCC	0.637000													45	108					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	43					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128674755	128674755	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:128674755G>A	ENST00000371113.4	+	2	239	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	OCRL_ENST00000357121.5_Missense_Mutation_p.R25Q|OCRL_ENST00000486673.1_Intron	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	25					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGTCCTCTCCGGGAGCCCTGC	0.622000													5	217					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61760987	61760987	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:61760987G>A	ENST00000584337.1	-	9	2068	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000299345.6_Intron			P55286	CADH8_HUMAN	cadherin 8, type 2	626	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAACAACATGGAGATATTTAC	0.368000													23	152					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80954628	80954628	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:80954628G>A	ENST00000403729.2	-	9	1319	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ANTXR2_ENST00000295465.4_Missense_Mutation_p.T265M|ANTXR2_ENST00000307333.7_Missense_Mutation_p.T265M|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T188M	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	265						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGACCTACTCGTTGTATATGT	0.393000									Juvenile Hyaline Fibromatosis				10	42					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								4	112					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107178	95107178	+	RNA	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:95107178G>T	ENST00000469935.1	+	0	117					NR_015340.1																						gcatgccacagagtggaagcc	0.562000													10	8					1.08611e-07	1.18857e-07	1	1	0
ECE2	9718	broad.mit.edu	37	3	183994343	183994343	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:183994343G>A	ENST00000404464.3	+	2	252	c.114G>A	c.(112-114)ccG>ccA	p.P38P	ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Silent_p.P38P|ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCCTCCCCGGACGCCATGG	0.677000													3	32					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129468151	129468151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:129468151C>A	ENST00000421865.2	+	6	916	c.867C>A	c.(865-867)tgC>tgA	p.C289*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	289	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTGCATCTGCTATGGTCATG	0.418000													87	127					5.82527e-40	8.10878e-40	1	1	0
INTS5	80789	broad.mit.edu	37	11	62416099	62416099	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:62416099A>C	ENST00000330574.2	-	2	1505	c.1453T>G	c.(1453-1455)Tgt>Ggt	p.C485G		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	485					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTCTCTCCACACAGCTCTCCA	0.612000													60	170					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175096157	175096157	+	Missense_Mutation	SNP	C	C	A	rs147363762	byFrequency	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:175096157C>A	ENST00000239462.4	+	13	3094	c.2981C>A	c.(2980-2982)aCg>aAg	p.T994K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGACCTGGACGCCCCCCTCT	0.502000													38	88					4.06502e-11	4.6842e-11	1	1	0
IFNA2	3440	broad.mit.edu	37	9	21385240	21385240	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:21385240T>C	ENST00000380206.2	-	1	156	c.89A>G	c.(88-90)cAc>cGc	p.H30R		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	30					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ACCCAGGCTGTGGGTTTGAGG	0.532000													24	126					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28493803	28493803	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr15:28493803T>A	ENST00000261609.7	-	21	3238	c.3130A>T	c.(3130-3132)Agt>Tgt	p.S1044C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1044					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTCACGACTGTGTTGCTCA	0.398000													4	63					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777543	237777543	+	Silent	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:237777543G>C	ENST00000366574.2	+	37	5432	c.5115G>C	c.(5113-5115)ctG>ctC	p.L1705L	RYR2_ENST00000542537.1_Silent_p.L1689L|RYR2_ENST00000360064.6_Silent_p.L1703L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1705	4 X approximate repeats.				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|cytosol|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	p.L1703L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTATGACCTGCTGATTGACA	0.537000													13	42					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49854899	49854899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:49854899G>A	ENST00000376088.3	+	13	2512	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	CLCN5_ENST00000376108.3_Missense_Mutation_p.R554Q|CLCN5_ENST00000307367.2_Missense_Mutation_p.R554Q|CLCN5_ENST00000376091.3_Missense_Mutation_p.R624Q	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	554	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCTCTTGGGCGGGAGGGCATC	0.488000													24	142					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087510	11087510	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:11087510C>T	ENST00000400897.3	-	11	1508	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	498	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGTGCCCATTCGAATGTCCAG	0.453000													10	209					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73914836	73914836	+	Silent	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:73914836T>C	ENST00000328257.8	+	2	488	c.165T>C	c.(163-165)gaT>gaC	p.D55D	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Silent_p.D55D			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	55					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CCATGGAAGATGTAGAAGTAG	0.378000													37	87					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108218987	108218987	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:108218987G>A	ENST00000273353.3	-	5	590	c.534C>T	c.(532-534)aaC>aaT	p.N178N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	178	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGAAAGGCGTTATTGGCAA	0.458000													7	46					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036612	32036612	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:32036612G>A	ENST00000375244.3	-	16	6090	c.5889C>T	c.(5887-5889)gtC>gtT	p.V1963V	TNXB_ENST00000375247.2_Silent_p.V1963V			P22105	TENX_HUMAN	tenascin XB	2045	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGGGCCTCGACATGGACAG	0.572000													6	111					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762768	130762768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:130762768G>T	ENST00000392429.1	+	2	3579	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D401Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D401Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	401						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTTGGACTTAGACCGGGGTCC	0.507000													8	80					0.00448238	0.00472687	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119694234	119694234	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:119694234A>T	ENST00000371322.5	-	1	321	c.260T>A	c.(259-261)gTt>gAt	p.V87D	CUL4B_ENST00000404115.3_Missense_Mutation_p.V105D|CUL4B_ENST00000336592.6_Missense_Mutation_p.V92D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	105	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCCACTGAAACCCCCAGGCA	0.527000													9	136					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					sensory perception	voltage-gated sodium channel complex		p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458000													48	117					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60549467	60549467	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:60549467A>T	ENST00000373886.3	+	8	825	c.821A>T	c.(820-822)cAt>cTt	p.H274L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	274					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTGTTAGAACATCTTGCTGGG	0.408000													10	253					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3168975	3168975	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:3168975G>A	ENST00000382192.3	+	6	759	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	185	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCTCCAGCCGGCAGGCAGGA	0.667000													9	167					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71957201	71957201	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:71957201A>G	ENST00000378799.6	+	8	1126	c.770A>G	c.(769-771)aAt>aGt	p.N257S	IST1_ENST00000378798.5_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.N270S|IST1_ENST00000541571.2_Missense_Mutation_p.N257S|IST1_ENST00000538850.1_Missense_Mutation_p.N109S|IST1_ENST00000544564.1_Missense_Mutation_p.N257S|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000329908.8_Missense_Mutation_p.N257S|IST1_ENST00000606369.1_Missense_Mutation_p.N109S|RP11-498D10.5_ENST00000567146.1_RNA	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	255	Interaction with VPS37B.|Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										TCAGATTTCAATGGACTGCCA	0.463000													12	94					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161697043	161697043	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:161697043C>T	ENST00000367948.2	+	8	1087	c.872C>T	c.(871-873)cCc>cTc	p.P291L	FCRLB_ENST00000392158.1_Missense_Mutation_p.P291L|FCRLB_ENST00000367944.3_Silent_p.S249S|FCRLB_ENST00000367946.3_Missense_Mutation_p.P243S|FCRLB_ENST00000336830.5_Silent_p.S256S|FCRLB_ENST00000367945.1_Missense_Mutation_p.P236S|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	291						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGGTTCTCCCCTGGACCCG	0.677000													13	56					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32955647	32955647	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr17:32955647C>T	ENST00000321639.5	+	4	1122	c.794C>T	c.(793-795)aCc>aTc	p.T265I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	265						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCATGTGACCTCGGAGCTG	0.617000													7	45					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654545	159654545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:159654545G>T	ENST00000297267.9	+	11	3201	c.3001G>T	c.(3001-3003)Gcc>Tcc	p.A1001S	FNDC1_ENST00000340366.6_Missense_Mutation_p.A938S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1001						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCGGCCGGGCCCCACAACA	0.706000													4	15					0.0215528	0.0220599	1	1	0
OR1B1	347169	broad.mit.edu	37	9	125391041	125391041	+	Silent	SNP	G	G	A	rs142453546		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:125391041G>A	ENST00000304833.3	-	1	811	c.774C>T	c.(772-774)taC>taT	p.Y258Y	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						TGATGGTGCCGTAGAGGAAAC	0.532000													32	66					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153418558	153418558	+	Silent	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:153418558C>A	ENST00000369951.4	+	3	615	c.555C>A	c.(553-555)gcC>gcA	p.A185A	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	185					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGACAGCCCCGCCCATCT	0.562000													21	116					1.22574e-08	1.34986e-08	1	1	0
TTI1	9675	broad.mit.edu	37	20	36627593	36627593	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr20:36627593G>A	ENST00000373448.2	-	6	3028	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F	TTI1_ENST00000373447.3_Silent_p.F930F|TTI1_ENST00000449821.1_Silent_p.F930F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	930							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCAGTACCTTGAAGGCTCTAA	0.582000													45	105					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			14	26					5.35267e-07	5.78487e-07	1	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1																						TGCCTGGGCCATGGAGCACTC	0.473000													4	27					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682675	47682675	+	Missense_Mutation	SNP	C	C	A	rs140641930	byFrequency	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:47682675C>A	ENST00000283303.2	+	6	1952	c.1694C>A	c.(1693-1695)cCg>cAg	p.P565Q	GPR115_ENST00000327753.3_Missense_Mutation_p.P565Q|GPR115_ENST00000371220.1_Missense_Mutation_p.P622Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	565					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTGCCATCCCGGCGTTCGTC	0.488000													34	101					2.45108e-15	3.00343e-15	1	1	0
RFC1	5981	broad.mit.edu	37	4	39322109	39322109	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:39322109T>G	ENST00000381897.1	-	9	1122	c.989A>C	c.(988-990)tAt>tCt	p.Y330S	RFC1_ENST00000349703.2_Missense_Mutation_p.Y330S|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	330					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTTCTTTATAAGAGCTCTC	0.378000													7	27					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R|ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517000													28	57					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439768	110439768	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:110439768G>A	ENST00000519681.1	+	17	1812	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	PAK3_ENST00000372007.4_Missense_Mutation_p.R436Q|PAK3_ENST00000372010.1_Missense_Mutation_p.R451Q|PAK3_ENST00000425146.1_Missense_Mutation_p.R436Q|PAK3_ENST00000446737.1_Missense_Mutation_p.R436Q|PAK3_ENST00000360648.4_Missense_Mutation_p.R472Q|PAK3_ENST00000262836.4_Missense_Mutation_p.R451Q|PAK3_ENST00000417227.1_Missense_Mutation_p.R457Q|PAK3_ENST00000518291.1_Missense_Mutation_p.R472Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	451	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.R472P(1)|p.R436P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGGTGACTCGAAAAGCTTAT	0.473000										TSP Lung(19;0.15)			28	164					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533718	156533718	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:156533718C>A	ENST00000307851.4	-	2	1044	c.314G>T	c.(313-315)aGt>aTt	p.S105I	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.S105I|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	105	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGATCCCACTGTCTGCTAG	0.448000													37	78					1.30998e-17	1.65172e-17	1	1	0
NHLRC3	387921	broad.mit.edu	37	13	39618295	39618295	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr13:39618295G>A	ENST00000379600.3	+	5	977	c.655G>A	c.(655-657)Gtt>Att	p.V219I	NHLRC3_ENST00000470258.1_Missense_Mutation_p.V22I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.V152I	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	219						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACCTCACAGTGTTACACTTGA	0.423000													9	372					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118980854	118980854	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:118980854C>T	ENST00000336702.3	+	2	754	c.395C>T	c.(394-396)cCa>cTa	p.P132L		NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	132						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCCAACTCCCACCCAGAGCC	0.577000													17	148					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103280210	103280210	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr13:103280210A>G	ENST00000376052.3	+	8	968	c.952A>G	c.(952-954)Ata>Gta	p.I318V	TPP2_ENST00000376065.4_Missense_Mutation_p.I318V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	318					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATAGAAGTTATAAATCATAA	0.358000													26	52					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132757216	132757216	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:132757216T>C	ENST00000420781.1	-	2	264	c.46A>G	c.(46-48)Aaa>Gaa	p.K16E	FNBP1_ENST00000355681.3_Missense_Mutation_p.K16E|FNBP1_ENST00000446176.2_Missense_Mutation_p.K16E			Q96RU3	FNBP1_HUMAN	formin binding protein 1	16	FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGTGTGTGTTTTTCTAAGTTG	0.343000			T	MLL	AML								4	209					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245604	4245604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:4245604G>T	ENST00000399609.3	-	5	572	c.560C>A	c.(559-561)aCt>aAt	p.T187N	SRL_ENST00000537996.1_Missense_Mutation_p.T145N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	646	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ATCCACAAAAGTGACCCTCTC	0.463000													66	191					2.10938e-32	2.84521e-32	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20525713	20525713	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:20525713G>C	ENST00000504154.1	+	14	1603	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	SLIT2_ENST00000503823.1_Missense_Mutation_p.E451Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.E455Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.E455Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	451	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAACCCGATTGAGACCAGTGG	0.483000													5	324					0	0	1	0	0
TCEAL1	9338	broad.mit.edu	37	X	102885086	102885086	+	Missense_Mutation	SNP	G	G	T	rs1052146		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:102885086G>T	ENST00000372625.3	+	3	406	c.242G>T	c.(241-243)gGg>gTg	p.G81V	TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Missense_Mutation_p.G81V|TCEAL1_ENST00000372626.3_Missense_Mutation_p.G81V	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	79					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGTTTGAGGGGCGCCCTCCC	0.552000													30	111					1.99505e-19	2.5714e-19	1	1	0
MPPED1	758	broad.mit.edu	37	22	43898634	43898634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr22:43898634G>A	ENST00000417669.1	+	6	1303	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	MPPED1_ENST00000542779.1_Missense_Mutation_p.E287K|MPPED1_ENST00000414469.2_Missense_Mutation_p.E181K|MPPED1_ENST00000439548.1_Missense_Mutation_p.E129K|MPPED1_ENST00000443721.1_Missense_Mutation_p.E287K|MPPED1_ENST00000538182.1_Missense_Mutation_p.E320K			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	287							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACATCCACGAAGGTCAGTA	0.602000													20	136					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:248201969C>T	ENST00000366479.2	+	1	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCCCATCCGTATAAGCAA	0.428000													25	200					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285044	55285044	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:55285044G>C	ENST00000336077.6	+	3	370	c.330G>C	c.(328-330)caG>caC	p.Q110H	KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.Q110H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	110					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCCCCTATCAGGTGTCAGCTC	0.517000													81	494					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012218	129012218	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:129012218G>T	ENST00000326639.6	+	6	632	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C	LARP1B_ENST00000264584.5_Missense_Mutation_p.G94C|LARP1B_ENST00000432347.2_Missense_Mutation_p.G141C|LARP1B_ENST00000441387.1_Missense_Mutation_p.G141C|LARP1B_ENST00000394288.3_Missense_Mutation_p.G141C|LARP1B_ENST00000512292.1_Missense_Mutation_p.G141C|LARP1B_ENST00000427266.1_Missense_Mutation_p.G141C|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	141	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GAGAAGTGAGGGTGGTAATAT	0.408000													44	101					9.90819e-18	1.25841e-17	1	1	0
PARK2	5071	broad.mit.edu	37	6	162206908	162206908	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:162206908C>T	ENST00000366898.1	-	7	869	c.767G>A	c.(766-768)cGc>cAc	p.R256H	PARK2_ENST00000366892.1_Missense_Mutation_p.R256H|PARK2_ENST00000338468.3_Missense_Mutation_p.R65H|PARK2_ENST00000366894.1_Missense_Mutation_p.R65H|PARK2_ENST00000366896.1_Missense_Mutation_p.R107H|PARK2_ENST00000366897.1_Missense_Mutation_p.R228H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	256			R -> C (in PARK2 and PARK; early and late onset; impairs the ability to ubiquitinate SNCAIP and ZNF746; dbSNP:rs34424986).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AATCACGTGGCGGGAGTTGCA	0.502000													10	43					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228479	74228479	+	Silent	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:74228479T>C	ENST00000316292.9	-	4	1705	c.714A>G	c.(712-714)ccA>ccG	p.P238P	EEF1A1_ENST00000309268.6_Silent_p.P238P|EEF1A1_ENST00000331523.2_Silent_p.P238P|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	238						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTGGACGAGTTGGTGGTAGGA	0.493000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	45	95					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644417	158644417	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:158644417G>A	ENST00000368148.3	-	9	1341	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	SPTA1_ENST00000368147.3_Silent_p.N387N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	387					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTCTTCTCGTTCATCCAGC	0.468000													37	243					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277902	54277902	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:54277902C>A	ENST00000381405.4	-	2	519	c.374G>T	c.(373-375)gGg>gTg	p.G125V	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	125					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTTTCCCGTCCCCCTGTCACA	0.498000													55	102					6.83704e-37	9.36728e-37	1	1	0
TFPI	7035	broad.mit.edu	37	2	188348883	188348883	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr2:188348883G>A	ENST00000233156.3	-	6	890	c.596C>T	c.(595-597)aCt>aTt	p.T199I	TFPI_ENST00000392365.1_Missense_Mutation_p.T199I|TFPI_ENST00000409676.1_Missense_Mutation_p.T199I|TFPI_ENST00000339091.4_Missense_Mutation_p.T199I|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	199					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TGATTGCGGAGTCAGGGAGTT	0.383000													13	94					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769869	144769869	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:144769869A>G	ENST00000367545.3	+	16	2036	c.2036A>G	c.(2035-2037)aAg>aGg	p.K679R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	679	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCCAAAGAAGAGACAGATC	0.393000													18	36					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299417	299417	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:299417G>A	ENST00000390665.3	-	12	1517	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	500					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCCAGTCCGAGAGCTCGGG	0.711000													20	43					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562902	84562902	+	RNA	SNP	A	A	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:84562902A>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TATGAAGCCCATATTAAATCT	0.433000													3	4					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103014067	103014067	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:103014067G>T	ENST00000375735.2	+	18	2789	c.2645G>T	c.(2644-2646)tGg>tTg	p.W882L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W882L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	882	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTACATGATTGGGAGAAAAAT	0.303000													41	56					1.19451e-25	1.5866e-25	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039214	11039214	+	RNA	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr21:11039214T>C	ENST00000470054.1	-	0	989									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTGGAGGCCTTGATTCTTCT	0.428000													12	341					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916368	72916368	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr17:72916368C>T	ENST00000319642.1	-	2	745	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	188					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCAGCCGGCGGCTCAGGGT	0.682000													13	70					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222721	53222721	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:53222721C>T	ENST00000452825.3	-	23	4537	c.4005G>A	c.(4003-4005)gaG>gaA	p.E1335E	KDM5C_ENST00000375379.3_Silent_p.E1402E|KDM5C_ENST00000375383.3_Silent_p.E1361E|KDM5C_ENST00000404049.3_Silent_p.E1404E|KDM5C_ENST00000375401.3_Silent_p.E1405E	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1405					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCAGGTCCCCCTCCATCATGA	0.617000			"""N, F, S"""		clear cell renal carcinoma								14	89					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67695394	67695394	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:67695394G>T	ENST00000458121.2	+	2	191	c.100G>T	c.(100-102)Gct>Tct	p.A34S	PARD6A_ENST00000602551.1_Missense_Mutation_p.A34S|PARD6A_ENST00000219255.3_Missense_Mutation_p.A34S	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	34	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCTGCCTCGCGCTTCGGTGAG	0.657000													27	172					8.4185e-14	1.0033e-13	1	1	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													4	11					0.217242	0.221053	1	1	0
FREM1	158326	broad.mit.edu	37	9	14842398	14842398	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:14842398C>T	ENST00000380881.4	-	10	2472	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	FREM1_ENST00000422223.2_Missense_Mutation_p.A552T|FREM1_ENST00000380880.3_Missense_Mutation_p.A552T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	552					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATCACTGGCGTCCACATCT	0.517000													17	113					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929457	23929457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr13:23929457C>T	ENST00000382298.3	-	8	1882	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.E432K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	432					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTTTTGCTTCATCATCTCTG	0.458000													25	55					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642000													4	87					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170689004	170689004	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:170689004C>A	ENST00000239461.6	+	2	692	c.379C>A	c.(379-381)Ctt>Att	p.L127I	PRRX1_ENST00000497230.2_Missense_Mutation_p.L127I|PRRX1_ENST00000367760.3_Missense_Mutation_p.L127I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.L127V(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGAGAAGACCTTGCCCGCCG	0.552000													21	126					4.26978e-12	5.01987e-12	1	1	0
ALDOA	226	broad.mit.edu	37	16	30080641	30080641	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:30080641C>T	ENST00000566897.1	+	9	1707	c.555C>T	c.(553-555)ccC>ccT	p.P185P	ALDOA_ENST00000395248.1_Silent_p.P239P|ALDOA_ENST00000569798.1_Silent_p.P185P|ALDOA_ENST00000563060.2_Silent_p.P185P|ALDOA_ENST00000569545.1_Silent_p.P185P|ALDOA_ENST00000412304.2_Silent_p.P185P|ALDOA_ENST00000564595.2_Silent_p.P239P|ALDOA_ENST00000338110.5_Silent_p.P185P|ALDOA_ENST00000564546.1_Silent_p.P185P|ALDOA_ENST00000395240.3_Silent_p.P189P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	185					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCATTGTGCCCATCGTGGAGC	0.577000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	148					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220195819	220195819	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:220195819C>A	ENST00000366923.3	-	9	1254	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	329	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AACTGGCTCCCTTTTTTCATT	0.348000													61	135					3.77215e-22	4.935e-22	1	1	0
OGT	8473	broad.mit.edu	37	X	70764469	70764469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:70764469G>A	ENST00000373719.3	+	4	732	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OGT_ENST00000373701.3_Missense_Mutation_p.R162H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	172					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCCTGGGTCGCTTGGAAGAA	0.413000													4	26					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52233423	52233423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:52233423C>A	ENST00000356297.4	-	22	4281	c.4181G>T	c.(4180-4182)gGg>gTg	p.G1394V	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_Missense_Mutation_p.R1312S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1394	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCTGTACACCCTGCCTGCCT	0.498000													41	313					5.20006e-24	6.85463e-24	1	1	0
ZNF784	147808	broad.mit.edu	37	19	56135825	56135825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:56135825G>T	ENST00000591479.1	-	1	107	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	ZNF784_ENST00000325351.4_Intron			Q8NCA9	ZN784_HUMAN	zinc finger protein 784	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGAGCCCCACGCCCAGGCCCC	0.711000													4	23					0.00024832	0.000265078	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346470	140346470	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:140346470C>A	ENST00000289269.5	+	1	651	c.119C>A	c.(118-120)gCg>gAg	p.A40E	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		40					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGCCCTGCGGCCTCCCAG	0.706000													4	15					0.00909568	0.00942053	1	1	0
KIAA1432	57589	broad.mit.edu	37	9	5763524	5763524	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:5763524C>A	ENST00000414202.2	+	19	2688	c.2497C>A	c.(2497-2499)Cgt>Agt	p.R833S	KIAA1432_ENST00000449720.2_Missense_Mutation_p.R717S|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R754S|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R833S|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R754S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	833						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCACATTCTACGTCAACTTCT	0.498000													3	81					1	1	1	1	0
BCHE	590	broad.mit.edu	37	3	165547329	165547329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:165547329C>A	ENST00000264381.3	-	2	1659	c.1493G>T	c.(1492-1494)cGg>cTg	p.R498L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	498					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTTGCCCACCGTTTCACTAT	0.388000													27	77					4.65686e-17	5.82946e-17	1	1	0
NIN	51199	broad.mit.edu	37	14	51230544	51230544	+	Splice_Site	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:51230544C>A	ENST00000245441.5	-	15	1964	c.1774_splice	c.e15+1	p.G592_splice	NIN_ENST00000530997.2_Splice_Site_p.G592_splice|NIN_ENST00000453196.1_Splice_Site_p.G592_splice|NIN_ENST00000389868.3_Splice_Site_p.G592_splice|NIN_ENST00000382043.4_Splice_Site_p.G592_splice|NIN_ENST00000324330.9_Splice_Site_p.G592_splice|NIN_ENST00000382041.3_Splice_Site_p.G592_splice	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	592					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGTGTTTACCGTGTTCGGGC	0.438000			T	PDGFRB	MPD								18	40					1.87028e-06	2.00882e-06	1	1	0
USP24	23358	broad.mit.edu	37	1	55563660	55563660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:55563660G>T	ENST00000294383.6	-	47	5550	c.5551C>A	c.(5551-5553)Cta>Ata	p.L1851I	USP24_ENST00000407756.1_Missense_Mutation_p.L1691I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1851					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTCCTTCTAGAACTTCTCCT	0.358000													22	65					4.7796e-09	5.29714e-09	1	1	0
CORIN	10699	broad.mit.edu	37	4	47680006	47680006	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:47680006C>T	ENST00000273857.4	-	9	1197	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	CORIN_ENST00000504584.1_Missense_Mutation_p.D363N|CORIN_ENST00000505909.1_Missense_Mutation_p.D363N|CORIN_ENST00000508498.1_Missense_Mutation_p.D261N|CORIN_ENST00000502252.1_Missense_Mutation_p.D333N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	400	LDL-receptor class A 4.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCGTCACCATCACATTGAAAC	0.488000													9	83					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104119162	104119162	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:104119162G>A	ENST00000369983.3	+	11	1407	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	383					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCCCCGGGGCGTGCGCTTTAC	0.562000													14	90					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168054972	168054972	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:168054972C>T	ENST00000367838.1	-	8	1700	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	GPR161_ENST00000537209.1_Missense_Mutation_p.A483T|GPR161_ENST00000361697.2_Missense_Mutation_p.A463T|GPR161_ENST00000539777.1_Missense_Mutation_p.A385T|GPR161_ENST00000367836.1_Missense_Mutation_p.A331T|GPR161_ENST00000546300.1_Missense_Mutation_p.A349T|GPR161_ENST00000367835.1_Missense_Mutation_p.A463T|GPR161_ENST00000271357.5_Missense_Mutation_p.A463T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	463					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AAGCTTGCTGCGTAACTGTCC	0.512000													4	94					0	0	1	0	0
MIR92A2	407049	broad.mit.edu	37	X	133303580	133303580	+	RNA	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:133303580C>T	ENST00000385299.1	-	0	62					NR_029509.1																						TTCCACAGGCCGGGACAAGTG	0.388000													4	120					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054580	201054580	+	Silent	SNP	A	A	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:201054580A>C	ENST00000362061.3	-	8	1360	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	CACNA1S_ENST00000367338.3_Silent_p.V378V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	378					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAAGTCCTCAACATCCATGA	0.567000													70	166					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28896489	28896489	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr13:28896489G>A	ENST00000282397.4	-	22	3212	c.2961C>T	c.(2959-2961)gaC>gaT	p.D987D	FLT1_ENST00000543394.1_Silent_p.D10D|FLT1_ENST00000540678.1_Silent_p.D205D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	987	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTAGAAACCGTCAGAATCTG	0.413000													25	35					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789256	48789256	+	Silent	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:48789256T>C	ENST00000595607.1	+	6	869	c.375T>C	c.(373-375)gaT>gaC	p.D125D	ZNF114_ENST00000315849.1_Silent_p.D125D|ZNF114_ENST00000600687.1_Silent_p.D125D|ZNF114_ENST00000597695.1_Silent_p.D91D			Q8NC26	ZN114_HUMAN	zinc finger protein 114	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTTGTGAAGATCATGAAATGA	0.463000													11	82					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138656975	138656975	+	Silent	SNP	C	C	T	rs149960236	byFrequency	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:138656975C>T	ENST00000298480.5	+	12	1208	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	KCNT1_ENST00000486577.2_Silent_p.V339V|KCNT1_ENST00000263604.3_Silent_p.V359V|KCNT1_ENST00000487664.1_Silent_p.V333V|KCNT1_ENST00000371757.2_Silent_p.V378V|KCNT1_ENST00000491806.2_Silent_p.V345V|KCNT1_ENST00000490355.2_Silent_p.V359V|KCNT1_ENST00000488444.2_Silent_p.V359V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	378						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCTGTGTGTCAGCTCCCTCA	0.622000													6	110					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524611	23524611	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:23524611G>T	ENST00000296682.3	+	10	1301	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	373					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.W373*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCAGCAAGTGGAAGAAAGAGC	0.463000										HNSCC(3;0.000094)			23	75					5.45727e-16	6.7345e-16	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116616864	116616864	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:116616864G>A	ENST00000395715.3	-	4	1909	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	TRPS1_ENST00000520276.1_Silent_p.T435T|TRPS1_ENST00000220888.5_Silent_p.T431T|TRPS1_ENST00000519674.1_Silent_p.T431T|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	431					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTAGTAACTGGTGGCCTCTG	0.463000									Langer-Giedion syndrome				4	73					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94041990	94041990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:94041990C>T	ENST00000297268.6	+	25	1970	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	500					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAAAGGCCCCACTGTAAGA	0.522000										HNSCC(75;0.22)			10	60					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149964	153149964	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:153149964G>A	ENST00000285900.5	+	13	2602	c.2259G>A	c.(2257-2259)ggG>ggA	p.G753G	GRIA1_ENST00000448073.4_Silent_p.G763G|GRIA1_ENST00000518142.1_Silent_p.G673G|GRIA1_ENST00000521843.2_Silent_p.G684G|GRIA1_ENST00000518783.1_Silent_p.G763G|GRIA1_ENST00000340592.5_Silent_p.G753G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	753					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACCCAAGGGGTCTGCCCTGA	0.512000													34	50					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854275	40854275	+	Missense_Mutation	SNP	C	C	A	rs149079553		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr18:40854275C>A	ENST00000255224.3	-	2	487	c.119G>T	c.(118-120)aGa>aTa	p.R40I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R22I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	40						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.R40K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGATGATTTTCTCTGACAGCA	0.408000													11	46					1.61879e-10	1.84098e-10	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422257	47422257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:47422257C>T	ENST00000404338.3	+	1	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	109					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAACCTCATCGAAGCACGGC	0.498000													5	173					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103310129	103310129	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:103310129A>G	ENST00000374879.4	+	6	1096	c.664A>G	c.(664-666)Ata>Gta	p.I222V	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.Y185C|TMEFF1_ENST00000334943.6_Missense_Mutation_p.I183V	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AGCATCTTGTATAAAGCAAGA	0.328000													12	81					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616761	116616761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:116616761C>A	ENST00000395715.3	-	4	2012	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	TRPS1_ENST00000520276.1_Missense_Mutation_p.G470C|TRPS1_ENST00000220888.5_Missense_Mutation_p.G466C|TRPS1_ENST00000519674.1_Missense_Mutation_p.G466C|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	466					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGATTAAGGCCGCCTGACTGC	0.428000									Langer-Giedion syndrome				4	98					0.000602214	0.000638935	1	1	0
ATRX	546	broad.mit.edu	37	X	76854906	76854906	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:76854906G>T	ENST00000373344.5	-	25	6144	c.5930C>A	c.(5929-5931)cCt>cAt	p.P1977H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1939H	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1977					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAAACAGAAGGATTGTTTCC	0.388000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						151	344					2.24169e-93	3.1456e-93	1	1	0
TBPL2	387332	broad.mit.edu	37	14	55881108	55881108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:55881108T>A	ENST00000247219.5	-	7	1187	c.1117A>T	c.(1117-1119)Aaa>Taa	p.K373*		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	373					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CAGGCTTTTTTAAAACCTTTT	0.328000													7	42					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122266	141122266	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr2:141122266A>T	ENST00000389484.3	-	72	12066	c.11095T>A	c.(11095-11097)Tgt>Agt	p.C3699S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3699	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTCCACAGTCGTCCTCT	0.408000										TSP Lung(27;0.18)			15	101					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606334	93606334	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:93606334G>A	ENST00000375754.4	+	2	302	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.A52T|SYK_ENST00000375751.4_Missense_Mutation_p.A52T|SYK_ENST00000375746.1_Missense_Mutation_p.A52T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	52	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGTGGCTTCGCCCTGTCCGT	0.637000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	19					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768026	31768026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:31768026C>A	ENST00000240587.4	-	2	3000	c.2673G>T	c.(2671-2673)agG>agT	p.R891S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	891					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCCTTCCTCTTCTGGG	0.602000													18	27					3.99206e-14	4.82374e-14	1	1	0
CLMN	79789	broad.mit.edu	37	14	95669669	95669669	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:95669669C>G	ENST00000298912.4	-	9	2130	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	673						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTTCTCCCTCTTCCTCATAA	0.542000													3	124					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39976208	39976208	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:39976208G>A	ENST00000314349.4	+	5	780	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TIMM50_ENST00000607714.1_Missense_Mutation_p.R113H|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	113	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCAGTTGCGCCGGACATAC	0.517000													42	86					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884589	23884589	+	Splice_Site	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:23884589C>T	ENST00000355349.3	-	36	5446		c.e36+1		CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGGGACTTACATCCGTGATG	0.592000													15	237					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35090057	35090057	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:35090057C>A	ENST00000311875.5	-	5	871	c.454G>T	c.(454-456)Gct>Tct	p.A152S	TCP11_ENST00000373979.2_Missense_Mutation_p.A77S|TCP11_ENST00000418521.2_Missense_Mutation_p.A76S|TCP11_ENST00000444780.2_Missense_Mutation_p.A147S|TCP11_ENST00000373974.4_Missense_Mutation_p.A106S|TCP11_ENST00000244645.3_Missense_Mutation_p.A77S|TCP11_ENST00000412155.2_Missense_Mutation_p.A101S|TCP11_ENST00000512012.1_Missense_Mutation_p.A139S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	139					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGTCCAGAGCTTCTTCAATC	0.478000													4	135					1	1	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42744310	42744310	+	Silent	SNP	A	A	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:42744310A>T	ENST00000372572.1	-	5	389	c.78T>A	c.(76-78)tcT>tcA	p.S26S	FOXJ3_ENST00000361346.1_Silent_p.S26S|FOXJ3_ENST00000545068.1_Silent_p.S26S|FOXJ3_ENST00000372573.1_Silent_p.S26S|FOXJ3_ENST00000361776.1_Silent_p.S26S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	26					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCAGTCCATAGACGTTAGGC	0.423000													20	161					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089556	27089556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:27089556G>T	ENST00000324856.7	+	8	2883	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.G455*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.G838*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	838					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGGTGCCGGAGGTCAAAT	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	75					3.7052e-28	4.95927e-28	1	1	0
TMEM260	54916	broad.mit.edu	37	14	57085396	57085396	+	Silent	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:57085396C>A	ENST00000261556.6	+	10	1263	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Silent_p.R381R|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		TGAGACTAACCGAGTGCTGAA	0.443000													3	111					1	1	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42175664	42175664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr15:42175664C>T	ENST00000320955.6	-	8	1768	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	514					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCTGCCAGCGCACGGTAAC	0.597000													15	119					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206315	71206315	+	Missense_Mutation	SNP	C	C	A	rs150548571		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr2:71206315C>A	ENST00000272421.6	+	2	525	c.259C>A	c.(259-261)Cgc>Agc	p.R87S	ANKRD53_ENST00000360589.3_Missense_Mutation_p.R87S|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	87										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCCGCCCCGCGCTGACCC	0.726000													18	131					1.56452e-12	1.85189e-12	1	1	0
GPR123	84435	broad.mit.edu	37	10	134909260	134909260	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:134909260G>A	ENST00000607359.1	+	11	2139	c.2139G>A	c.(2137-2139)ccG>ccA	p.P713P	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCTCGGGCCCGCTGGCTGCCT	0.662000													12	26					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323273	15323273	+	RNA	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr18:15323273G>A	ENST00000455308.2	-	0	575					NR_027417.1																						CTTATCAACTGCAATTGCATT	0.313000													4	21					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161318052	161318052	+	Silent	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:161318052C>T	ENST00000428797.2	+	9	1207	c.852C>T	c.(850-852)gtC>gtT	p.V284V	GABRA1_ENST00000393943.4_Silent_p.V284V|GABRA1_ENST00000420560.1_Silent_p.V284V|GABRA1_ENST00000437025.2_Silent_p.V284V|GABRA1_ENST00000444819.1_Silent_p.V284V|GABRA1_ENST00000023897.6_Silent_p.V284V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAGAACTGTCTTTGGTAAGT	0.388000													22	59					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735726	158735726	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:158735726G>A	ENST00000335094.2	-	1	766	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CATAGAAGATGAGAACCACAG	0.537000													38	240					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148664269	148664269	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:148664269G>A	ENST00000367467.3	+	1	541	c.66G>A	c.(64-66)gaG>gaA	p.E22E	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	22	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		cggagcccgagcccgcgccgg	0.736000													9	26					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936432	79936432	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:79936432C>G	ENST00000360280.3	+	44	5860	c.5600C>G	c.(5599-5601)tCt>tGt	p.S1867C	VPS13A_ENST00000376636.3_Missense_Mutation_p.S1828C|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1867C|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1867C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1867					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCACTGGATCTTCAGCTGAC	0.338000													12	56					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003793	155003793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:155003793C>T	ENST00000302805.2	+	2	691	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	87					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTGCCAGCTCAATGTCCCAT	0.562000													20	202					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53518582	53518582	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:53518582T>G	ENST00000323669.5	-	12	2500	c.2501A>C	c.(2500-2502)cAg>cCg	p.Q834P	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	834	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATCTTTATTCTGCATTACATT	0.338000													6	9					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8166274	8166274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr17:8166274G>T	ENST00000314666.6	+	12	1506	c.1373G>T	c.(1372-1374)aGg>aTg	p.R458M	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R34M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	458					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCGTCTACAGGATTGGAGTT	0.532000													30	117					5.43694e-19	6.95608e-19	1	1	0
POLA1	5422	broad.mit.edu	37	X	24761348	24761348	+	Splice_Site	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:24761348G>A	ENST00000379068.3	+	23	2511	c.2466_splice	c.e23-1	p.G823_splice	POLA1_ENST00000379059.3_Splice_Site_p.G817_splice			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	817					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGATATTAGGGAGATGAAGAT	0.358000													7	52					0	0	1	0	0
CYBA	1535	broad.mit.edu	37	16	88713578	88713578	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr16:88713578G>A	ENST00000569359.1	-	3	150	c.134C>T	c.(133-135)gCg>gTg	p.A45V	CYBA_ENST00000261623.3_Missense_Mutation_p.A45V|CYBA_ENST00000567174.1_Missense_Mutation_p.A45V			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	45					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding	p.A45V(1)		endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAACACGCCCGCCACACTGAA	0.622000													3	37					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94821127	94821127	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:94821127G>A	ENST00000285949.5	+	1	107	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	36					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				TGGACCCTCCGCTGGATGCTG	0.697000													3	14					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167247010	167247010	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:167247010A>G	ENST00000308378.3	-	10	1485	c.1180T>C	c.(1180-1182)Tca>Cca	p.S394P	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S458P|WDR49_ENST00000476376.1_Missense_Mutation_p.S219P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	394										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCTCCACATGATACCAGGTTA	0.383000													24	48					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179674482	179674482	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:179674482C>T	ENST00000452135.2	-	7	943	c.645G>A	c.(643-645)atG>atA	p.M215I	MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.M215I|MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000425491.2_Missense_Mutation_p.M215I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	215	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCTCTCCCATGATGCAAC	0.438000													16	78					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140306134	140306134	+	Splice_Site	SNP	T	T	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:140306134T>A	ENST00000296543.5	+	18	2625		c.e18+2		NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTATCAGGTAATCACTTTA	0.303000													8	83					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225701	26225701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:26225701G>T	ENST00000360408.1	+	1	319	c.319G>T	c.(319-321)Gac>Tac	p.D107Y		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	107					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCTTTTCGAGGACACCAACCT	0.572000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	91					1.11057e-38	1.53365e-38	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	97022661	97022661	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:97022661G>A	ENST00000216277.8	+	19	2135	c.1915G>A	c.(1915-1917)Gca>Aca	p.A639T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A639T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	639	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGGAAATGCAGCAACAAAAAT	0.433000													4	93					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74492422	74492422	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:74492422T>G	ENST00000437994.2	+	18	2480	c.2049T>G	c.(2047-2049)agT>agG	p.S683R	CD109_ENST00000287097.5_Missense_Mutation_p.S683R|CD109_ENST00000422508.2_Missense_Mutation_p.S606R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	683	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGTAGCAGTCCACATGTCC	0.348000													19	125					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77373665	77373665	+	Silent	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:77373665C>A	ENST00000373316.4	+	6	806	c.639C>A	c.(637-639)ggC>ggA	p.G213G	PGK1_ENST00000537456.1_Silent_p.G185G|PGK1_ENST00000442431.1_Silent_p.G77G	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	213					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCATCCTGGGCGGGTATGAAG	0.483000													38	112					1.68508e-10	1.90393e-10	1	1	0
SDK1	221935	broad.mit.edu	37	7	4172011	4172011	+	Missense_Mutation	SNP	G	G	A	rs141481774		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:4172011G>A	ENST00000404826.2	+	28	4323	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1395Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1395	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCTCCGTGCGGATAGTGTGG	0.617000													8	45					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47705160	47705160	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr21:47705160G>T	ENST00000397708.1	-	2	295	c.41C>A	c.(40-42)gCt>gAt	p.A14D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A14D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	14					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGCCGAAAAAGCACTAGGCTG	0.403000													19	147					1.50039e-11	1.75213e-11	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761811	92761811	+	Silent	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:92761811T>C	ENST00000318238.4	-	5	4690	c.3474A>G	c.(3472-3474)aaA>aaG	p.K1158K	SAMD9L_ENST00000437805.1_Silent_p.K1158K|SAMD9L_ENST00000411955.1_Silent_p.K1158K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1158										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCTTGAGGCTTTTTCCGCAG	0.408000													4	224					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17432097	17432097	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:17432097G>T	ENST00000302539.4	-	22	2788	c.2663C>A	c.(2662-2664)aCc>aAc	p.T888N	ABCC8_ENST00000389817.3_Missense_Mutation_p.T887N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	887	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TAGCTTGTGGGTCACTAAGAC	0.592000													51	248					9.10829e-22	1.18272e-21	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85531678	85531678	+	Silent	SNP	G	G	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr12:85531678G>A	ENST00000393217.2	+	19	4321	c.4260G>A	c.(4258-4260)gaG>gaA	p.E1420E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1420	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGCTCTAGAGGCTATTAAGA	0.303000													28	77					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	120					0.004672	0.00489716	1	1	0
CALCR	799	broad.mit.edu	37	7	93065384	93065384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:93065384C>A	ENST00000359558.2	-	14	1430	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N	CALCR_ENST00000394441.1_Missense_Mutation_p.K343N|CALCR_ENST00000360249.4_Missense_Mutation_p.K359N|CALCR_ENST00000426151.1_Missense_Mutation_p.K343N|CALCR_ENST00000421592.1_Missense_Mutation_p.K359N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	359					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 receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATGGTGGCCTTCACAGCCT	0.488000													21	56					4.35082e-09	4.88414e-09	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98806497	98806497	+	Silent	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr10:98806497G>T	ENST00000266058.4	-	18	2012	c.1767C>A	c.(1765-1767)gcC>gcA	p.A589A	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.A589A	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	589					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTCACAGAGGCTGCGCCCT	0.597000													15	101					1.99824e-07	2.17308e-07	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90755385	90755385	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:90755385G>C	ENST00000354366.3	-	11	2566	c.2334C>G	c.(2332-2334)aaC>aaG	p.N778K	NRDE2_ENST00000357904.3_Missense_Mutation_p.N547K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GGCAAAAGTTGTTGCAGTTTT	0.448000													6	269					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107975923	107975923	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chrX:107975923G>C	ENST00000372129.2	-	1	3728	c.3652C>G	c.(3652-3654)Cgc>Ggc	p.R1218G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1218						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGCGACTGCGAGGTGGTGGT	0.597000													47	317					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40998260	40998260	+	Splice_Site	SNP	C	C	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:40998260C>A	ENST00000399564.4	-	42	5102	c.4651_splice	c.e42-1	p.R1551_splice	MROH2B_ENST00000506092.2_Splice_Site_p.R1106_splice	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCTTGGAGTCCTGAAATGGC	0.498000													37	100					9.58827e-17	1.19169e-16	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101374920	101374920	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr11:101374920C>G	ENST00000344327.3	-	2	1204	c.780G>C	c.(778-780)caG>caC	p.Q260H	TRPC6_ENST00000532133.1_Missense_Mutation_p.Q260H|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q260H|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q260H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	260					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTTCTGTTTCTGGTTGCAGT	0.478000													29	162					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834518	82834518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:82834518T>C	ENST00000265077.3	+	8	6261	c.5696T>C	c.(5695-5697)aTa>aCa	p.I1899T	VCAN_ENST00000343200.5_Missense_Mutation_p.I912T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1899	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCTGAAAATATAACCCAAACA	0.438000													53	147					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													5	112					0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249142584	249142584	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:249142584G>C	ENST00000306562.3	+	4	1857	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAAATGCCCCGAGTGCAGCAA	0.642000													33	53					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95841818	95841818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr9:95841818G>T	ENST00000375472.3	+	4	527	c.491G>T	c.(490-492)gGc>gTc	p.G164V	SUSD3_ENST00000375469.1_Missense_Mutation_p.G151V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	164						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GCATACCTTGGCCTCAAGCAC	0.617000													15	68					5.03518e-11	5.76396e-11	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													3	6	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)acc>a	p.TP431del	PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	431	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655													9	196	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912	byFrequency	TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)del	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													8	81	---	---	---	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr4:88986559delA	ENST00000237596.2	+	11	2218	c.2152delA	c.(2152-2154)aafs	p.K719fs	PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	719	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													7	184	---	---	---	---					
TNPO1	3842	broad.mit.edu	37	5	72189463	72189463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:72189463delA	ENST00000337273.5	+	18	2502	c.2076delA	c.(2074-2076)cgfs	p.R692fs	TNPO1_ENST00000454282.1_Frame_Shift_Del_p.R642fs|TNPO1_ENST00000523768.1_Frame_Shift_Del_p.R642fs|TNPO1_ENST00000506351.2_Frame_Shift_Del_p.R684fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	692					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CAGAAGTTCGACAGAGTTCTT	0.373													25	178	---	---	---	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)cta>ct	p.LL17del	HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	17						integral to membrane		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438													7	120	---	---	---	---					
TDRG1	732253	broad.mit.edu	37	6	40317144	40317144	+	RNA	DEL	C	C	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:40317144delC	ENST00000451810.1	+	0	313				TDRG1_ENST00000448559.1_RNA																							CCTCCACAGGCCCCCAGATTG	0.572													2	4	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													10	88	---	---	---	---					
GJA1	2697	broad.mit.edu	37	6	121768995	121768995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr6:121768995delT	ENST00000282561.3	+	2	1159	c.1002delT	c.(1000-1002)ccfs	p.P334fs		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	334					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATGCACAGCCTTTTGATTTCC	0.473													8	177	---	---	---	---					
THAP5	168451	broad.mit.edu	37	7	108205008	108205009	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:108205008_108205009delAT	ENST00000415914.3	-	3	967_968	c.814_815delAT	c.(814-816)tfs	p.I272fs	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Frame_Shift_Del_p.I230fs	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	272					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAAAATGGCAATAACAGATTCT	0.322													39	82	---	---	---	---					
DOCK4	9732	broad.mit.edu	37	7	111387388	111387388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:111387388delG	ENST00000428084.1	-	43	4800	c.4528delC	c.(4528-4530)tgfs	p.L1510fs	DOCK4_ENST00000494651.2_Frame_Shift_Del_p.L384fs|DOCK4_ENST00000437633.1_Frame_Shift_Del_p.L1501fs			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1501	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CACATAGTCAGGGGATTAATA	0.398													18	48	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													9	15	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43216289	43216290	+	RNA	INS	-	-	A			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:43216289_43216290insA	ENST00000522175.2	+	0	1542_1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGAAGTGGCCGAAAAAAAAATG	0.282													2	4	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113484879	113484879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr8:113484879delG	ENST00000297405.5	-	32	5580	c.5336delC	c.(5335-5337)cafs	p.P1779fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.P1739fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.P1675fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.P1779fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1779	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAATTTTTTGGATAGTTTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	207	---	---	---	---					
UCHL3	7347	broad.mit.edu	37	13	76123902	76123916	+	RNA	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs8192737		TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000563635.1	+	0	0_8																											GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7	---	---	---	---					
NPC2	10577	broad.mit.edu	37	14	74951146	74951147	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr14:74951146_74951147insGG	ENST00000541064.1	-	3	340_341	c.334_335insCC	c.(334-336)actfs	p.T112fs	NPC2_ENST00000238633.2_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000434013.2_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000557510.1_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000555619.1_Frame_Shift_Ins_p.T112fs			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	112					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		CACTGGTAGTTTATTCAGGTAG	0.475													97	185	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15734491	15734492	+	RNA	INS	-	-	G			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr19:15734491_15734492insG	ENST00000441682.2	+	0	979							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTAGTGTGATTGGGGTTCTTGT	0.475													17	38	---	---	---	---					
TTI1	9675	broad.mit.edu	37	20	36627694	36627694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr20:36627694delG	ENST00000373448.2	-	6	2927	c.2689delC	c.(2689-2691)agfs	p.Q897fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.Q897fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.Q897fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	897							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTGTGGGACTGAAGAACAACC	0.537													20	164	---	---	---	---					
MGC20647	91370	broad.mit.edu	37	22	30642384	30642386	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-8097-01A-11D-2238-08	TCGA-55-8097-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bbfb3c-a182-4f8f-b53c-540fad5f6c00	cdb4117f-8e30-4e18-8880-8fa1eda591b9	g.chr22:30642384_30642386delGAG	ENST00000593843.1	+	2	200_202	c.200_202delGAG	c.(199-204)cga>c	p.RG67del	LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron																							TGTCCggagcgaggaggaggagg	0.606													3	4	---	---	---	---					
