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
FUCA1	2517	broad.mit.edu	37	1	24189688	24189688	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189688C>T	uc001bie.3	-	2	681	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	200					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTTTTGAAGCCATTTTTCTTA	0.388												
FUCA1	2517	broad.mit.edu	37	1	24189727	24189727	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189727C>T	uc001bie.3	-	2	642	c.559G>A	c.(559-561)Gag>Aag	p.E187K	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	187					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGGAACCACTCTAAGAGTGAG	0.358												
LRRC41	10489	broad.mit.edu	37	1	46745257	46745257	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:46745257C>G	uc001cpn.3	-	7	2094	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LRRC41_uc010omb.2_Missense_Mutation_p.E684Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCGCTTCTCAAACAGACGG	0.552												
IFI16	3428	broad.mit.edu	37	1	158986412	158986412	+	Silent	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:158986412C>G	uc001ftg.3	+	3	761	c.471C>G	c.(469-471)gcC>gcG	p.A157A	IFI16_uc010pis.2_Intron|IFI16_uc010pit.2_Silent_p.A157A|IFI16_uc001ftf.1_Silent_p.A157A	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	157					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCAGGAGCCGGCATGTCCA	0.522												
NR5A2	2494	broad.mit.edu	37	1	200017711	200017711	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:200017711G>C	uc001gvb.3	+	4	1081	c.875G>C	c.(874-876)aGt>aCt	p.S292T	NR5A2_uc001gvc.3_Missense_Mutation_p.S246T|NR5A2_uc009wzh.3_Missense_Mutation_p.S252T|NR5A2_uc010pph.2_Missense_Mutation_p.S220T	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	292					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATATGGATAGTTACCAGACG	0.488												
OR2T3	343173	broad.mit.edu	37	1	248637231	248637231	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:248637231T>C	uc001iel.1	+	0	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCTCTCCTGCTCTGACGT	0.517												
OR5AR1	219493	broad.mit.edu	37	11	56431364	56431364	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:56431364T>G	uc010rjm.2	+	0	203	c.203T>G	c.(202-204)tTt>tGt	p.F68C	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AACCTCTCCTTTGTTGACCTG	0.463												
OSBP	5007	broad.mit.edu	37	11	59376014	59376014	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:59376014G>A	uc001noc.1	-	2	1245	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	255					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACCTGTTTGATCTTTTCAT	0.478												
CTSF	8722	broad.mit.edu	37	11	66333870	66333870	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:66333870G>C	uc001oip.3	-	4	703	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	205					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGCCACCGGGCTTCTGAG	0.587												
WNT11	7481	broad.mit.edu	37	11	75907584	75907584	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:75907584G>A	uc001oxe.3	-	1	385	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	WNT11_uc001oxf.1_Missense_Mutation_p.R88C	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	88					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGTTCCAGCGCATGTCGGCA	0.632												
SLC2A14	144195	broad.mit.edu	37	12	7970576	7970576	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:7970576C>A	uc010sgh.2	-	8	1261	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	SLC2A14_uc001qtk.3_Missense_Mutation_p.A399S|SLC2A14_uc001qtl.3_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.3_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.2_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.3_Missense_Mutation_p.A399S|SLC2A14_uc001qto.3_Missense_Mutation_p.A34S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	399					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCAAAACAGGCCACAAAGACC	0.498												
WIF1	11197	broad.mit.edu	37	12	65460443	65460443	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:65460443G>T	uc001ssk.3	-	5	1083	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	236	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.G235E(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCACTCCATAGAATCCAGGTG	0.373			T	HMGA2	pleomorphic salivary gland adenoma							
TRHDE	283392	broad.mit.edu	37	12	72666917	72666917	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:72666917C>T	uc001sxa.3	+	0	389	c.359C>T	c.(358-360)aCg>aTg	p.T120M	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	120					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGGGGACCACGTCGGCCCAG	0.741												
SCARB1	949	broad.mit.edu	37	12	125296422	125296422	+	Silent	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:125296422C>T	uc001ugp.3	-	4	973	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCARB1_uc001ugm.4_Silent_p.L240L|SCARB1_uc001ugn.4_Silent_p.L240L|SCARB1_uc010tbd.2_Silent_p.L240L|SCARB1_uc001ugo.4_Silent_p.L240L	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	240					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCTTGCTCAGCCCGTTCC	0.652												
TMEM132B	114795	broad.mit.edu	37	12	126138507	126138507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:126138507G>T	uc001uhe.1	+	8	2496	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	830						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488												
GPC6	10082	broad.mit.edu	37	13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr13:94680086A>G	uc001vlt.3	+	3	1447	c.815A>G	c.(814-816)aAc>aGc	p.N272S	GPC6_uc010tig.1_Missense_Mutation_p.N272S|5S_rRNA_uc021rli.1_5'Flank	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	272						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527												
FANCM	57697	broad.mit.edu	37	14	45620712	45620712	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:45620712A>T	uc001wwd.4	+	4	1130	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.3_Missense_Mutation_p.N318I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	344					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAGGAAAAACCCATCTCCG	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
ACTN1	87	broad.mit.edu	37	14	69349623	69349623	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:69349623G>A	uc001xkl.3	-	14	2095	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ACTN1_uc001xkk.3_Silent_p.I191I|ACTN1_uc010ttb.2_Silent_p.I530I|ACTN1_uc001xkm.3_Silent_p.I595I|ACTN1_uc001xkn.3_Silent_p.I595I|ACTN1_uc010ttc.2_Silent_p.I180I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	595	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTGAGGCGTGATGGTTGTGT	0.517												
DICER1	23405	broad.mit.edu	37	14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:95557629T>C	uc001ydw.2	-	25	5650	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1813	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1813G(2)|p.E1813A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome			
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:66853375C>A	uc002aqc.3	-	5	806	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_uc002aqd.4_Missense_Mutation_p.G52V|LCTL_uc010bhw.3_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	225					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G225V(6)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602												
NOX5	79400	broad.mit.edu	37	15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:69347743T>A	uc002ars.2	+	14	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.L644Q|NOX5_uc002arp.2_Missense_Mutation_p.L672Q|NOX5_uc010bid.2_Missense_Mutation_p.L655Q|NOX5_uc010bie.2_Missense_Mutation_p.L490Q|NOX5_uc002arr.2_Missense_Mutation_p.L662Q|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	690					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597												
UNC45A	55898	broad.mit.edu	37	15	91488293	91488293	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:91488293A>G	uc002bqg.3	+	9	1539	c.1199_splice	c.e9+1	p.K400_splice	UNC45A_uc002bqd.3_Splice_Site_p.K385_splice|UNC45A_uc010uqr.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	400					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AACTACATCAAGTAAGGAAGT	0.478												
SNX29	84127	broad.mit.edu	37	16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:12145796G>A	uc002dby.4	+	7					SNX29_uc002dbw.2_Missense_Mutation_p.V281M	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.						cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483												
AKTIP	64400	broad.mit.edu	37	16	53528141	53528141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:53528141G>A	uc002ehm.3	-	7	801	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	AKTIP_uc002ehk.3_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehl.3_Nonsense_Mutation_p.Q207*	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	207					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAAAAAGCTGAATATCTTTT	0.308												
CDH16	1014	broad.mit.edu	37	16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:66946227G>A	uc002eql.3	-	11	1660	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_uc010cdy.3_Missense_Mutation_p.A489V|CDH16_uc021tjx.1_Missense_Mutation_p.A489V|CDH16_uc002eqm.3_Missense_Mutation_p.A392V	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577												
WWP2	11060	broad.mit.edu	37	16	69973830	69973830	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:69973830T>C	uc002exu.1	+	24	2689	c.2600T>C	c.(2599-2601)tTt>tCt	p.F867S	WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	867	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGAGGGCTTTGGACAGGAG	0.612												
TP53	7157	broad.mit.edu	37	17	7577035	7577036	+	Frame_Shift_Ins	INS	-	-	G	rs72661120		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:7577035_7577036insG	uc002gim.2	-	7	1096_1097	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGTGCTCCCTGGGGGCAGCTC	0.559		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
NF1	4763	broad.mit.edu	37	17	29557336	29557336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:29557336C>T	uc002hgg.3	+	22	3432	c.3049C>T	c.(3049-3051)Caa>Taa	p.Q1017*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.2_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1017					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q1017*(2)|p.C1016fs*4(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAACTGTGTCAATTAGTTGA	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
GAS2L2	246176	broad.mit.edu	37	17	34072639	34072639	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:34072639C>G	uc002hjv.2	-	5	1905	c.1877G>C	c.(1876-1878)aGg>aCg	p.R626T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	626					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCAGACCTTGTGCCCTG	0.582												
TUBG2	27175	broad.mit.edu	37	17	40817702	40817702	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40817702A>G	uc010wgr.2	+	7	956	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	TUBG2_uc002iap.3_Missense_Mutation_p.T81A	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	234					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGGTGTCCACCATCATGTC	0.637												
WNK4	65266	broad.mit.edu	37	17	40939868	40939868	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40939868C>A	uc002ibj.3	+	7	1882	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	WNK4_uc010wgx.2_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAGCCCCCTGGGGGGGTG	0.632												
C18orf34	374864	broad.mit.edu	37	18	30873224	30873224	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr18:30873224T>A	uc010xbr.1	-	10	1217	c.1075A>T	c.(1075-1077)Ata>Tta	p.I359L	C18orf34_uc002kxn.2_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.3_Missense_Mutation_p.I359L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	359										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTAACATTTATCACTGATGAA	0.279												
URI1	8725	broad.mit.edu	37	19	30476136	30476136	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:30476136G>A	uc002nsr.3	+	2	468	c.159G>A	c.(157-159)aaG>aaA	p.K53K	URI1_uc002nsq.3_Silent_p.K35K|URI1_uc002nss.3_Silent_p.K13K|URI1_uc002nst.3_5'UTR	NM_003796	NP_003787	O94763	RMP_HUMAN	Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.	53					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										ACAGGAAGAAGGTAGATAATG	0.249												
WDR88	126248	broad.mit.edu	37	19	33651345	33651345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33651345T>A	uc002nui.3	+	7	1101	c.1023T>A	c.(1021-1023)ttT>ttA	p.F341L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	341										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CTGGAGGGTTTGATAGGACTG	0.493												
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33695616A>C	uc010edh.3	+	3	426	c.333A>C	c.(331-333)ccA>ccC	p.P111P	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	111	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	p.P111P(2)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662												
KCTD15	79047	broad.mit.edu	37	19	34292103	34292103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:34292103C>T	uc002nuy.4	+	3	366	c.98C>T	c.(97-99)aCc>aTc	p.T33I	KCTD15_uc002nuv.3_Missense_Mutation_p.T33I|KCTD15_uc002nuw.4_Missense_Mutation_p.T33I|KCTD15_uc010xrt.2_Missense_Mutation_p.T33I|KCTD15_uc002nux.4_Missense_Mutation_p.T33I	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.	33						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CTGTCTCTCACCCGGTCGCCT	0.582												
ZNF470	388566	broad.mit.edu	37	19	57088457	57088457	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:57088457A>G	uc002qnl.4	+	5	1336	c.660A>G	c.(658-660)caA>caG	p.Q220Q	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACACAAGCAAGACCGTGGAG	0.308												
ZNF324	25799	broad.mit.edu	37	19	58983498	58983498	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:58983498G>A	uc002qsw.2	+	3	1784	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCAGCCGCCGTCTCGCAGCC	0.652												
APOB	338	broad.mit.edu	37	2	21247830	21247830	+	Missense_Mutation	SNP	C	C	T	rs148190577	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:21247830C>T	uc002red.3	-	15	2539	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	804				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGCAGAGTGCGGGCACCCAT	0.587												
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542												
NRXN1	9378	broad.mit.edu	37	2	50765702	50765702	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:50765702T>A	uc021vhh.1	-	8	2753	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	NRXN1_uc002rxb.4_Missense_Mutation_p.D283V|NRXN1_uc021vhg.1_Missense_Mutation_p.D651V|NRXN1_uc021vhi.1_Missense_Mutation_p.D647V|NRXN1_uc021vhj.1_Missense_Mutation_p.D607V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	611	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACAACTCATCATCCAGGTC	0.527												
ARHGAP25	9938	broad.mit.edu	37	2	69046427	69046427	+	Silent	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:69046427T>C	uc010fdg.3	+	8	1595	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	ARHGAP25_uc010yql.2_Silent_p.S352S|ARHGAP25_uc002sev.3_Silent_p.S385S|ARHGAP25_uc002sew.3_Silent_p.S384S|ARHGAP25_uc002sex.3_Silent_p.S385S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCGAATTTCTAGGACAGACA	0.532												
LMAN2L	81562	broad.mit.edu	37	2	97400183	97400183	+	Silent	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:97400183G>C	uc002swv.3	-	2	423	c.387C>G	c.(385-387)ggC>ggG	p.G129G	LMAN2L_uc002swu.3_Silent_p.G129G|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_Missense_Mutation_p.A12G|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_Missense_Mutation_p.A12G|LMAN2L_uc010yux.2_Missense_Mutation_p.A12G	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	129	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTGCCAAGCCATCCCCAT	0.473												
MFSD9	84804	broad.mit.edu	37	2	103340253	103340253	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:103340253G>C	uc002tcb.2	-	4	611	c.543C>G	c.(541-543)atC>atG	p.I181M	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.I120M	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	181					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGGGCCCAAGATGAAGCCCA	0.502												
FIGN	55137	broad.mit.edu	37	2	164466661	164466661	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:164466661C>T	uc002uck.1	-	2	1992	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	561						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGCTTCTCCTAACCACTTG	0.493												
CPO	130749	broad.mit.edu	37	2	207827161	207827161	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:207827161A>T	uc002vby.2	+	6	646	c.600A>T	c.(598-600)caA>caT	p.Q200H		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	200					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAACTGCCAAGATCAAACAT	0.448												
SPHKAP	80309	broad.mit.edu	37	2	228881144	228881144	+	Missense_Mutation	SNP	C	C	T	rs150119101		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:228881144C>T	uc002vpq.2	-	6	4473	c.4426G>A	c.(4426-4428)Gtg>Atg	p.V1476M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1476						cytoplasm	protein binding	p.A1475V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGCGCTCACGGCTGTGTCT	0.463												
KRTAP10-9	386676	broad.mit.edu	37	21	46047750	46047750	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr21:46047750C>A	uc002zfp.4	+	0	711	c.662C>A	c.(661-663)aCc>aAc	p.T221N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	221	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTTGCTGCACCACCTCCTGC	0.657												
COL7A1	1294	broad.mit.edu	37	3	48612126	48612126	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:48612126C>G	uc003ctz.2	-	76	6378	c.6377G>C	c.(6376-6378)gGt>gCt	p.G2126A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2126	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTGGGACCTTGGTCACC	0.607												
C3orf38	285237	broad.mit.edu	37	3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:88205314G>A	uc003dqw.3	+	2	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	173					apoptosis			p.W171*(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCACTTCTGGCATGATGTGA	0.418												
DRD3	1814	broad.mit.edu	37	3	113847759	113847759	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:113847759C>T	uc003ebd.2	-	8	1430	c.1007_splice	c.e8-1	p.G336_splice	DRD3_uc010hqn.1_Splice_Site_p.G336_splice|DRD3_uc003ebb.1_Splice_Site_p.G303_splice|DRD3_uc003ebc.1_Splice_Site_p.G336_splice	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	336					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AATGAAGGCCCCTAAGTTGCC	0.478												
PPM1L	151742	broad.mit.edu	37	3	160786689	160786689	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:160786689A>G	uc003fdr.3	+	3	928	c.827A>G	c.(826-828)aAc>aGc	p.N276S	PPM1L_uc003fds.3_Missense_Mutation_p.N97S|PPM1L_uc003fdt.3_Missense_Mutation_p.N149S|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	276	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAAATCTCAACGTGGTCATC	0.522												
PCYT1A	5130	broad.mit.edu	37	3	195969479	195969479	+	Nonsense_Mutation	SNP	A	A	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:195969479A>C	uc003fwg.3	-	6	692	c.519T>G	c.(517-519)taT>taG	p.Y173*	PCYT1A_uc003fwh.3_Nonsense_Mutation_p.Y173*	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	173	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CAGCAGATGAATAAGGAATAT	0.428												
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:108866315C>T	uc003hyp.3	+	1	763	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438												
ANK2	287	broad.mit.edu	37	4	114279919	114279919	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:114279919T>C	uc003ibe.4	+	37	10245	c.10145T>C	c.(10144-10146)aTc>aCc	p.I3382T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3349					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGCAAGCATCGCACCAGAT	0.463												
MLF1IP	79682	broad.mit.edu	37	4	185631267	185631267	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:185631267A>G	uc003iwq.3	-	7	826	c.756T>C	c.(754-756)aaT>aaC	p.N252N	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.N252N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	252					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCAAAACAATATTCAACTCCT	0.348												
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:7875377G>A	uc003jed.3	+	3	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348												
MARCH6	10299	broad.mit.edu	37	5	10423856	10423857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:10423856_10423857insT	uc003jet.1	+	22	2476_2477	c.2293_2294insT	c.(2293-2295)cttfs	p.L765fs	MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	765					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGACTGGGCACTTGGAGTCCTG	0.361												
RAB24	53917	broad.mit.edu	37	5	176729179	176729179	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:176729179T>C	uc003mfv.3	-	7	803	c.434_splice	c.e7-1	p.N145_splice	RAB24_uc003mfw.3_Splice_Site_p.N145_splice|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.	145					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTGATATCTGTAAAGAG	0.502												
HUS1B	135458	broad.mit.edu	37	6	656375	656375	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:656375G>A	uc003mtg.3	-	0	590	c.570C>T	c.(568-570)acC>acT	p.T190T	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	190										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTATACTCAGGGTCATCCTGC	0.562												
TTBK1	84630	broad.mit.edu	37	6	43250498	43250498	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:43250498G>T	uc003ouq.1	+	13	2299	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	TTBK1_uc021yzs.1_5'UTR	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	674						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G674G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGTGAATGGCCTCCCACG	0.612												
SYNE1	23345	broad.mit.edu	37	6	152779932	152779932	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:152779932C>G	uc021zhb.1	-	19	2751	c.2528G>C	c.(2527-2529)cGt>cCt	p.R843P	SYNE1_uc003qot.4_Missense_Mutation_p.R850P|SYNE1_uc003qou.4_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.3_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	843					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTGCCTCACGCTCAAGAAC	0.403										HNSCC(10;0.0054)		
GIMAP2	26157	broad.mit.edu	37	7	150390248	150390248	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150390248C>T	uc003who.3	+	2	962	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	292						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCATACTGCACAGCATGTG	0.328												
GIMAP1-GIMAP5	55340	broad.mit.edu	37	7	150440111	150440111	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150440111T>A	uc022apw.1	+	5	1636	c.1496T>A	c.(1495-1497)cTt>cAt	p.L499H	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.L295H	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGCAGCATACTTTTTTTCATT	0.368												
XKR5	389610	broad.mit.edu	37	8	6681094	6681094	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:6681094T>A	uc022aqv.1	-	3	737	c.586A>T	c.(586-588)Agt>Tgt	p.S196C	XKR5_uc003wqq.3_Missense_Mutation_p.S33C	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	196						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAACCAGACTCAGCACGCGG	0.542												
LOC392232	392232	broad.mit.edu	37	8	73150397	73150397	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:73150397A>T	uc022avu.1	-	5		c.775T>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		GTTATCCACAAAGTTGATGTG	0.403												
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:8389318C>T	uc003zkk.3	-	36	5043	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1018K|PTPRD_uc003zks.3_Missense_Mutation_p.E1027K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1024K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1434	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)		
SLC28A3	64078	broad.mit.edu	37	9	86924627	86924627	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:86924627A>T	uc010mpz.3	-	2	305	c.159T>A	c.(157-159)gaT>gaA	p.D53E	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	53					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGTTCTTCATCCTGGAAAT	0.428												
KIAA1958	158405	broad.mit.edu	37	9	115336719	115336719	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:115336719G>T	uc011lwx.1	+	1	534	c.359G>T	c.(358-360)tGt>tTt	p.C120F	KIAA1958_uc004bgf.1_Missense_Mutation_p.C120F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAGACTCTTGTGACTTCTCC	0.473												
NUP62CL	54830	broad.mit.edu	37	X	106397360	106397360	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:106397360G>C	uc004ena.3	-	4	570	c.311C>G	c.(310-312)gCt>gGt	p.A104G	NUP62CL_uc004enb.3_Intron	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	104					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ATGGTCCCAAGCATTGACCTG	0.388												
UBE2NL	389898	broad.mit.edu	37	X	142967486	142967487	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:142967486_142967487AG>TA	uc004fca.3	+	0	314_315	c.284_285AG>TA	c.(283-285)aag>aTA	p.K95I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	95							acid-amino acid ligase activity	p.K95*(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAAGATAAGTGGTCCCCAG	0.421												
GABRQ	55879	broad.mit.edu	37	X	151808911	151808911	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:151808911G>A	uc004ffp.1	+	1	242	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	74						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCCGCCTGAGACCGAATT	0.463												
