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
CSGALNACT2	55454	broad.mit.edu	37	10	43654323	43654323	+	Silent	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:43654323C>A	ENST00000374466.3	+	3	1157	c.822C>A	c.(820-822)atC>atA	p.I274I	CSGALNACT2_ENST00000374464.1_Silent_p.I274I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	274					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATTAATATCATTGTGCCAC	0.378000													3	57					0.00909568	0.00909568	1	1	0
DCC	1630	broad.mit.edu	37	18	50734133	50734133	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr18:50734133C>T	ENST00000442544.2	+	11	2423	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	DCC_ENST00000412726.1_Missense_Mutation_p.R451C|DCC_ENST00000581580.1_Missense_Mutation_p.R258C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	603	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R603C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTATAATCGCTATGGTCC	0.353000													39	78					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891808	167891808	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:167891808G>A	ENST00000265293.4	+	21	3493	c.2991G>A	c.(2989-2991)gcG>gcA	p.A997A	WWC1_ENST00000521089.1_Silent_p.A1003A|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTGCAGGCGACAAGAACCT	0.612000													22	41					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33087532	33087532	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:33087532A>G	ENST00000334274.4	+	8	1529	c.1129A>G	c.(1129-1131)Att>Gtt	p.I377V	TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	377										kidney(1)|liver(2)|lung(2)|skin(1)	6						GATTGTGAAGATTTTGCTAAC	0.542000											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	143					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128981	76128981	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:76128981C>T	ENST00000296677.4	+	2	755	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	183					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCATGGGGCACTCCAGGAAGA	0.488000													7	141					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37842227	37842227	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:37842227G>A	ENST00000300658.4	-	2	319	c.227C>T	c.(226-228)aCc>aTc	p.T76I	PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I|PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGCCCAACGGTGACCCACAT	0.537000													3	57					0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27861816	27861816	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:27861816C>A	ENST00000264718.3	+	9	698	c.677C>A	c.(676-678)gCc>gAc	p.A226D	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	212						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TTCCAAGATGCCTTGAATCAA	0.443000													5	67					0.000602214	0.000649758	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	44					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97202876	97202876	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:97202876A>T	ENST00000389672.5	+	10	2211	c.2173A>T	c.(2173-2175)Att>Ttt	p.I725F	EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000514100.1_Missense_Mutation_p.I117F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	630	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCCTCAAGAATTCGTATTGA	0.378000													10	17					0	0	1	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	rs146610892	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament	structural molecule activity	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632000													41	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399157	179399157	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:179399157A>G	ENST00000589042.1	-	358	102409	c.102185T>C	c.(102184-102186)aTg>aCg	p.M34062T	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32421T|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32421	Ig-like 151.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATGCTGTCATGCGAGATTT	0.418000													43	67					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882663	110882663	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:110882663C>G	ENST00000369784.3	+	1	1536	c.636C>G	c.(634-636)agC>agG	p.S212R	RBM15_ENST00000487146.2_Missense_Mutation_p.S212R|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	212	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTCTGGCAGCGGGGATGAGC	0.602000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	38					0	0	1	0	0
PRSS57	400668	broad.mit.edu	37	19	687034	687034	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:687034T>C	ENST00000329267.7	-	4	565	c.536A>G	c.(535-537)aAg>aGg	p.K179R		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	179	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						CACTCGGACCTTGGCCTCCAT	0.672000													9	29					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104879560	104879560	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:104879560G>A	ENST00000393141.2	-	2	225	c.194C>T	c.(193-195)aCg>aTg	p.T65M	CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.T65M|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.T52M	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTTGATCCGTATTAGGTAC	0.373000													6	66					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036187	48036187	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:48036187C>A	ENST00000543600.1	-	1	193	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	PTCHD4_ENST00000339488.4_Missense_Mutation_p.D69Y			Q6ZW05	CF138_HUMAN	patched domain containing 4	69						integral to membrane	hedgehog receptor activity										CGCTCCAGGTCGCCCTCGGGC	0.652000													3	37					0.004672	0.0047888	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137655578	137655578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:137655578G>T	ENST00000371817.3	+	20	2443	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592000													4	81					1.23904e-05	1.41113e-05	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	150					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													6	121					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48789079	48789079	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:48789079T>C	ENST00000265563.8	-	11	1403	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	385					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGTTCCTCATAGTGTGAGAT	0.512000													11	20					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130658585	130658585	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:130658585C>T	ENST00000373146.1	-	3	232	c.53G>A	c.(52-54)gGg>gAg	p.G18E	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	18					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCAGGTGGCCCTGGGGGCAG	0.552000													42	67					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059809	34059809	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:34059809G>A	ENST00000374181.3	-	2	756	c.587C>T	c.(586-588)tCc>tTc	p.S196F	GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000538487.1_Missense_Mutation_p.S196F|GRM4_ENST00000544773.1_Missense_Mutation_p.S27F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	196					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CACCACGCGGGAGAAGAAGTC	0.642000													21	73					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685167	100685167	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:100685167C>T	ENST00000306151.4	+	3	10534	c.10470C>T	c.(10468-10470)acC>acT	p.T3490T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3490	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTCTTCTC	0.488000													143	202					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966384	64966384	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:64966384C>A	ENST00000326648.3	+	4	1459	c.1331C>A	c.(1330-1332)cCc>cAc	p.P444H	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	444						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAACAAACCCCTTTCAGAC	0.562000													3	74					0.004672	0.0047888	1	1	0
MT-CYB	4519	broad.mit.edu	37	MT	15003	15003	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chrM:15003G>A	ENST00000361789.2	+	1	257	c.257G>A	c.(256-258)gGc>gAc	p.86_86insD						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TCACGCCAATGGCGCCTCAAT	0.473000													65	48					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760609	31760609	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:31760609G>A	ENST00000375663.3	-	4	1026	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	196	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTGGCTGCCGGACACACGTG	0.557000													3	53					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64863789	64863789	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:64863789G>A	ENST00000328747.7	+	4	961	c.762G>A	c.(760-762)gaG>gaA	p.E254E	ZNF92_ENST00000450302.2_Silent_p.E185E|ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000431504.1_Silent_p.E178E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATACTGGAGAGAAACCCTACA	0.353000													3	39					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													4	206					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	3090	3090	+	RNA	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chrM:3090G>A	ENST00000387347.2	+	0	1420					NR_039705.1																						CGGAGTAATCCAGGTCGGTTT	0.458000													43	92					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	43					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120797832	120797832	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:120797832G>C	ENST00000369144.3	-	20	3773	c.3646C>G	c.(3646-3648)Cgg>Ggg	p.R1216G	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1216	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ttctcctcccgatcttgatta	0.483000													3	82					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85345382	85345382	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:85345382G>A	ENST00000299927.3	+	8	3584	c.3562G>A	c.(3562-3564)Gag>Aag	p.E1188K	ZNF592_ENST00000560079.2_Missense_Mutation_p.E1188K			Q92610	ZN592_HUMAN	zinc finger protein 592	1188					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ggaggaagaggaggCGGCGGC	0.607000													7	13					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359608	125359608	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:125359608G>A	ENST00000278919.3	-	2	300	c.66C>T	c.(64-66)gaC>gaT	p.D22D	FEZ1_ENST00000366139.3_Silent_p.D22D|FEZ1_ENST00000524435.1_Silent_p.D22D	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	22					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCCTCCGGGTCCTCCGAGC	0.542000													44	71					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64812733	64812733	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr12:64812733G>A	ENST00000332707.5	+	6	877	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	116	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.E116E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTGTTACAGAGTATCTCACTA	0.438000													3	57					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3901	3901	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chrM:3901G>A	ENST00000361390.2	+	1	595	c.595G>A	c.(595-597)Gac>Aac	p.199_199insN						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						GAACCCCCTTCGACCTTGCCG	0.488000													7	126					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64812728	64812728	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr12:64812728A>G	ENST00000332707.5	+	6	872	c.343A>G	c.(343-345)Aca>Gca	p.T115A		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	115	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.T115A(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTTTTTGTTACAGAGTATCT	0.433000													3	55					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:101198093C>A	ENST00000294728.2	+	7	1746	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483000													17	21					3.52763e-06	4.13237e-06	1	1	0
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:7980912_7980914delCTT	ENST00000377507.3	-	8	915_917	c.749_751delAAG	c.(748-753)gga>g	p.EG250del		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													7	132	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73613087	73613089	+	In_Frame_Del	DEL	GCG	GCG	-	rs13009609		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:73613087_73613089delGCG	ENST00000264448.6	+	1	202_204	c.91_93delGCG	c.(91-93)del	p.A35del	ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del|ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	35	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ggaggCTGCAGCGGCGGCGGCGG	0.675													2	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	165097024	165097025	+	RNA	DEL	AC	AC	-			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:165097024_165097025delAC	ENST00000522189.1	+	0	21																											cccacccccgacacacacacag	0.540													2	4	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													7	16	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													2	4	---	---	---	---					
POLE2	5427	broad.mit.edu	37	14	50131361	50131366	+	In_Frame_Del	DEL	CATGCC	CATGCC	-			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr14:50131361_50131366delCATGCC	ENST00000539565.2	-	8	800_805	c.582_587delGGCATG	c.(580-588)gac>ga	p.EAC194del	POLE2_ENST00000216367.5_In_Frame_Del_p.EAC220del|POLE2_ENST00000554396.1_In_Frame_Del_p.EAC220del|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	220					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGACAAAGCATGCCTCTGTGTATA	0.350													15	106	---	---	---	---					
MYO9B	4650	broad.mit.edu	37	19	17294679	17294680	+	Splice_Site	INS	-	-	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:17294679_17294680insA	ENST00000595618.1	+	16	2525		c.e16+2		MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411													3	3	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11175282	11175283	+	RNA	INS	-	-	G	rs56073885		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr21:11175282_11175283insG	ENST00000603265.1	+	0	231																											GATCATCTGTAGTGTACGGTGG	0.391													5	3	---	---	---	---					
