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
CCDC27	148870	broad.mit.edu	37	1	3687985	3687985	+	Silent	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:3687985C>T	uc001akv.2	+	11	1950	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	623										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGAGAGAAGCGACTACTATA	0.547												
TINAGL1	64129	broad.mit.edu	37	1	32049166	32049166	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:32049166A>C	uc001bta.3	+	4	698	c.572A>C	c.(571-573)cAt>cCt	p.H191P	TINAGL1_uc010ogj.2_Missense_Mutation_p.H160P|TINAGL1_uc010ogk.1_Missense_Mutation_p.H191P|TINAGL1_uc021oko.1_Missense_Mutation_p.H86P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	191					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGAACATGCATGAAATTTAT	0.592												
RORC	6097	broad.mit.edu	37	1	151789175	151789175	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:151789175A>G	uc001ezh.3	-	3	371	c.263T>C	c.(262-264)cTg>cCg	p.L88P	RORC_uc001ezg.3_Missense_Mutation_p.L67P|RORC_uc010pdo.2_Missense_Mutation_p.L142P|RORC_uc010pdp.2_Missense_Mutation_p.L88P	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	88					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATTTCTGCAGGCGGCAGTG	0.662												
HRNR	388697	broad.mit.edu	37	1	152185788	152185788	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:152185788C>T	uc001ezt.1	-	2	8393	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2773					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTCGGCCGTGGCTAAGA	0.602												
CEP350	9857	broad.mit.edu	37	1	180062525	180062525	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:180062525T>A	uc001gnt.3	+	33	7668	c.7285T>A	c.(7285-7287)Ttt>Att	p.F2429I	CEP350_uc009wxl.2_Missense_Mutation_p.F2428I|CEP350_uc001gnv.3_Missense_Mutation_p.F564I|CEP350_uc001gnw.1_Missense_Mutation_p.F186I|CEP350_uc001gnx.1_Missense_Mutation_p.F186I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2429						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCACTAGCTTTGGTAGTAA	0.453												
SUFU	51684	broad.mit.edu	37	10	104353785	104353785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:104353785delG	uc001kvy.2	+	5	910	c.719delG	c.(718-720)aggfs	p.R240fs	SUFU_uc001kvw.2_Frame_Shift_Del_p.R240fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.R240fs|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GACATGCGGAGGGGAGAGACC	0.532			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation			
WDR96	80217	broad.mit.edu	37	10	105906078	105906078	+	Silent	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:105906078A>G	uc001kxw.3	-	29	3914	c.3798T>C	c.(3796-3798)tcT>tcC	p.S1266S	WDR96_uc009xxq.3_Intron	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1266										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTCTTCTCTAGATTTCCGAA	0.418												
SIGIRR	59307	broad.mit.edu	37	11	408155	408155	+	Silent	SNP	G	G	A	rs142561304		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:408155G>A	uc001lpg.3	-	2	411	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIGIRR_uc001lpd.2_Silent_p.N86N|SIGIRR_uc001lpf.2_Silent_p.N86N|SIGIRR_uc001lpe.1_Silent_p.N86N			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	86	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTCACGTTGACCCCCA	0.577												
OR10AG1	282770	broad.mit.edu	37	11	55735664	55735664	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:55735664C>T	uc010rit.2	-	0	276	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M92T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAACACATTTGTGTAG	0.403												
DDI1	414301	broad.mit.edu	37	11	103908618	103908618	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:103908618G>A	uc001phr.2	+	0	1311	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	356					proteolysis		aspartic-type endopeptidase activity	p.T356T(3)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463												
MMP19	4327	broad.mit.edu	37	12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:56230872C>T	uc001sib.3	-	8	1596	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_uc001sia.3_Missense_Mutation_p.G206D|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	492					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAAGGTTATGCCCGTACCTGA	0.507												
PLXNC1	10154	broad.mit.edu	37	12	94654582	94654582	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:94654582A>T	uc001tdc.3	+	19	3665	c.3416A>T	c.(3415-3417)aAc>aTc	p.N1139I	PLXNC1_uc010sut.2_Missense_Mutation_p.N186I|PLXNC1_uc009zsv.3_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1139					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCACAAACTGGATGTCC	0.498												
COL4A2	1284	broad.mit.edu	37	13	111084708	111084708	+	Splice_Site	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr13:111084708G>A	uc001vqx.3	+	11	973	c.684_splice	c.e11+1	p.Q228_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	228	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACAGCAAGTAAGTTGGTT	0.438												
PTGR2	145482	broad.mit.edu	37	14	74346839	74346839	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr14:74346839C>G	uc001xow.3	+	6	971	c.811C>G	c.(811-813)Cct>Gct	p.P271A	PTGR2_uc010tue.2_Missense_Mutation_p.P271A|PTGR2_uc001xox.3_Missense_Mutation_p.P271A|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	271					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CCCGCTATCCCCTGCTATAGA	0.413												
MFAP1	4236	broad.mit.edu	37	15	44106722	44106722	+	Silent	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr15:44106722G>T	uc001zth.1	-	3	778	c.594C>A	c.(592-594)cgC>cgA	p.R198R		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	198						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCTTAAGGCGAGGCTCCA	0.448												
VWA3A	146177	broad.mit.edu	37	16	22149825	22149825	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:22149825G>A	uc010vbq.2	+	21	2380	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A770T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	762						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCCCTGGGGGCCAGAATGGT	0.537												
STX1B	112755	broad.mit.edu	37	16	31004532	31004532	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:31004532G>A	uc010cad.2	-	8	817	c.705C>T	c.(703-705)aaC>aaT	p.N235N	STX1B_uc010vfd.2_Silent_p.N235N	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	235	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AATGTTCCACGTTGTACTCGA	0.602												
FAM92B	339145	broad.mit.edu	37	16	85132864	85132864	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:85132864A>C	uc021tma.1	-	8	998	c.842T>G	c.(841-843)gTg>gGg	p.V281G	FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532												
FOXN1	8456	broad.mit.edu	37	17	26864216	26864216	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr17:26864216C>T	uc010crm.3	+	8	1907	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	FOXN1_uc002hbj.3_Missense_Mutation_p.S570L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	570					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACATCATCTTCGATGCCACCA	0.612												
THOC1	9984	broad.mit.edu	37	18	225100	225100	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr18:225100T>C	uc002kkj.4	-	13	1166	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.4_5'UTR	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	376					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTACCATCTTTGAAAATCTT	0.363												
RPSA	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567												
CEACAM7	1087	broad.mit.edu	37	19	42187745	42187745	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:42187745C>T	uc002ori.1	-	2	679	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEACAM7_uc010ehx.2_Missense_Mutation_p.R226H|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	226	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGTCACTGCGGCTGGCACC	0.547												
NLRP12	91662	broad.mit.edu	37	19	54313743	54313743	+	Silent	SNP	G	G	A	rs146245368	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:54313743G>A	uc002qcj.4	-	2	1390	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Y390Y|NLRP12_uc002qci.4_Silent_p.Y390Y|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Y390Y	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	390	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCCCTCACGTAATTGAAGA	0.567												
ADCY3	109	broad.mit.edu	37	2	25044464	25044464	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:25044464C>T	uc010ykm.2	-	18	3251	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604T|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCGAAGTCGGCCAGGTCAGCC	0.607												
C2orf55	343990	broad.mit.edu	37	2	99438371	99438371	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:99438371G>T	uc002szf.1	-	6	2659	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	789	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTCCTGGGTTCCCGCTCT	0.736												
BOLL	66037	broad.mit.edu	37	2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:198643759G>A	uc002uuu.1	-	2	558	c.179C>T	c.(178-180)tCc>tTc	p.S60F	BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	54	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318												
FASTKD5	60493	broad.mit.edu	37	20	3128199	3128199	+	Silent	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr20:3128199A>C	uc021vzx.1	-	0	1518	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.T506T	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	506					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468												
OR5AC2	81050	broad.mit.edu	37	3	97806212	97806212	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:97806212G>A	uc011bgs.2	+	0	196	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTATTCCTTGGTGGTTTAGC	0.438												
SENP7	57337	broad.mit.edu	37	3	101046635	101046635	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:101046635T>C	uc003dut.3	-	22	3001	c.2890A>G	c.(2890-2892)Aaa>Gaa	p.K964E	SENP7_uc003duu.3_Missense_Mutation_p.K899E|SENP7_uc003duv.3_Missense_Mutation_p.K931E|SENP7_uc003duw.3_Missense_Mutation_p.K898E|SENP7_uc003dux.3_Missense_Mutation_p.K800E|SENP7_uc003dus.3_Missense_Mutation_p.K152E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	964	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTTTAGTTTAACTTCCCAC	0.338												
AADAC	13	broad.mit.edu	37	3	151545690	151545690	+	Silent	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:151545690A>G	uc003eze.3	+	4	1020	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	310					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGCTAAAAAATATCCAGGGT	0.418												
ATOH1	474	broad.mit.edu	37	4	94750754	94750754	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:94750754C>T	uc003hta.1	+	0	677	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	226	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCCACCGCCGCCTCCAGCC	0.632												
ZNF827	152485	broad.mit.edu	37	4	146791485	146791485	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:146791485G>A	uc003ikn.3	-	4	1941	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	ZNF827_uc003ikm.3_Silent_p.D631D|ZNF827_uc010iox.3_Silent_p.D281D	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTTAGTGCGTCCTCAGAGA	0.537												
IL31RA	133396	broad.mit.edu	37	5	55203287	55203287	+	Silent	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:55203287C>T	uc003jql.3	+	10	1546	c.1354_splice	c.e10+1	p.V452_splice	IL31RA_uc003jqk.3_Splice_Site_p.V452_splice|IL31RA_uc011cqj.2_Splice_Site_p.V310_splice|IL31RA_uc003jqm.3_Splice_Site_p.V433_splice|IL31RA_uc003jqn.3_Splice_Site_p.V452_splice|IL31RA_uc010iwa.1_Splice_Site_p.V420_splice|IL31RA_uc021xyq.1_Splice_Site_p.V433_splice|IL31RA_uc003jqo.3_Splice_Site_p.V310_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	420	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463												
FBN2	2201	broad.mit.edu	37	5	127624839	127624839	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:127624839T>C	uc003kuu.3	-	51	7056	c.6617A>G	c.(6616-6618)tAc>tGc	p.Y2206C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2206	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTCCAGTGTAGTCAAGGTT	0.428												
DSP	1832	broad.mit.edu	37	6	7581687	7581687	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:7581687A>T	uc003mxp.1	+	22	5543	c.5264A>T	c.(5263-5265)cAg>cTg	p.Q1755L	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1755	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAGCCAGCTGCAGATC	0.483												
ZNF184	7738	broad.mit.edu	37	6	27419109	27419109	+	Silent	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:27419109T>C	uc003njj.3	-	4	3040	c.2229A>G	c.(2227-2229)aaA>aaG	p.K743K	ZNF184_uc010jqv.3_Silent_p.K743K|ZNF184_uc003nji.3_Silent_p.K743K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCTGATGTTTGTTGAGAG	0.378												
PKHD1	5314	broad.mit.edu	37	6	51777281	51777281	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51777281G>T	uc003pah.1	-	37	6491	c.6215C>A	c.(6214-6216)cCt>cAt	p.P2072H	PKHD1_uc010jzn.1_Missense_Mutation_p.P97H|PKHD1_uc003pai.3_Missense_Mutation_p.P2072H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2072					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCATCCCCAGGGTTCCAGTC	0.478												
PKHD1	5314	broad.mit.edu	37	6	51947232	51947232	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51947232A>G	uc003pah.1	-	3	515	c.239T>C	c.(238-240)tTt>tCt	p.F80S	PKHD1_uc003pai.3_Missense_Mutation_p.F80S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	80	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAACAGGAAAGACGTCACA	0.502												
COL10A1	1300	broad.mit.edu	37	6	116442879	116442879	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:116442879G>A	uc003pwm.3	-	2	496	c.400C>T	c.(400-402)Cta>Tta	p.L134L	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	134	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTCCTGGTAGGCCAGCTGGT	0.602												
AGMO	392636	broad.mit.edu	37	7	15599842	15599842	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:15599842G>T	uc003stb.1	-	1	351	c.181C>A	c.(181-183)Ctc>Atc	p.L61I		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	61					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.I60F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTCCTTTGAGAATCCAGCTG	0.438												
COBL	23242	broad.mit.edu	37	7	51287539	51287539	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:51287539C>A	uc003tps.3	-	1	329	c.144G>T	c.(142-144)caG>caT	p.Q48H	COBL_uc003tpr.4_Missense_Mutation_p.Q48H|COBL_uc011kcl.2_Missense_Mutation_p.Q48H|COBL_uc010kzc.3_Missense_Mutation_p.Q48H|COBL_uc003tpt.3_Missense_Mutation_p.Q48H	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	48										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCAAGTTCTGCTGCGACCCGA	0.632												
PHF2	5253	broad.mit.edu	37	9	96421820	96421820	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:96421820C>T	uc004aub.3	+	10	1414	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	PHF2_uc011lug.1_Missense_Mutation_p.P306S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	423					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGACGAGCTCCCGGAGCACTT	0.612												
LPAR1	1902	broad.mit.edu	37	9	113703965	113703965	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:113703965C>T	uc011lwo.2	-	1	534	c.532G>A	c.(532-534)Gtt>Att	p.V178I	LPAR1_uc004bfa.3_Missense_Mutation_p.V177I|LPAR1_uc011lwm.2_Missense_Mutation_p.V178I|LPAR1_uc004bfc.3_Missense_Mutation_p.V177I|LPAR1_uc011lwn.2_Missense_Mutation_p.V159I|LPAR1_uc004bfb.3_Missense_Mutation_p.V177I|LPAR1_uc010mub.3_Missense_Mutation_p.V177I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.V177I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCACCCATAACGATGGCCATA	0.498												
CNTRL	11064	broad.mit.edu	37	9	123930543	123930543	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:123930543C>G	uc004bkx.1	+	35	6045	c.6014C>G	c.(6013-6015)aCt>aGt	p.T2005S	CNTRL_uc004blb.1_Missense_Mutation_p.T674S|CNTRL_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2005	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGTGTTAGGACTCTGCAGGAA	0.498												
DCAF8L1	139425	broad.mit.edu	37	X	27999269	27999269	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:27999269G>A	uc004dbx.1	-	0	298	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	61								p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCTGGCATCGTTCAGGAAAC	0.507												
SSX5	6758	broad.mit.edu	37	X	48053576	48053576	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:48053576C>T	uc004diz.1	-	4	445	c.392G>A	c.(391-393)cGt>cAt	p.R131H	SSX5_uc004dja.1_Missense_Mutation_p.R90H	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATTCCCACGGTTAGGGTC	0.498												
MUM1L1	139221	broad.mit.edu	37	X	105450536	105450536	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:105450536G>A	uc022cca.1	+	0	1111	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MUM1L1_uc004emg.2_Missense_Mutation_p.D371N|MUM1L1_uc004emf.2_Missense_Mutation_p.D371N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	371										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTAGATGATGATGAGGA	0.368												
LAMP2	3920	broad.mit.edu	37	X	119589247	119589247	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:119589247C>A	uc004ess.4	-	2	542	c.362G>T	c.(361-363)gGt>gTt	p.G121V	LAMP2_uc004est.4_Missense_Mutation_p.G121V|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.G74V|LAMP2_uc010nqp.1_Missense_Mutation_p.G121V	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	121	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTGTTATCACCAGTGTTGTA	0.363