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
UBR4	23352	broad.mit.edu	37	1	19451182	19451182	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:19451182A>G	uc001bbi.3	-	64	9445	c.9441T>C	c.(9439-9441)ggT>ggC	p.G3147G	UBR4_uc001bbk.1_Silent_p.G794G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3147					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCAGCATGACCCTGGGAGA	0.413												
SFN	2810	broad.mit.edu	37	1	27190037	27190037	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:27190037G>T	uc010ofi.1	-	0		c.413C>A			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.G112W			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CAAGGAGGCCGGGGACGCCGA	0.637												
BCAR3	8412	broad.mit.edu	37	1	94032964	94032964	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:94032964A>G	uc001dpz.3	-	10	2446	c.2171T>C	c.(2170-2172)tTt>tCt	p.F724S	BCAR3_uc001dqa.3_Missense_Mutation_p.F724S|BCAR3_uc001dqb.3_Missense_Mutation_p.F724S|BCAR3_uc001dpx.4_Missense_Mutation_p.F400S|BCAR3_uc001dpy.3_Missense_Mutation_p.F633S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	724	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTCCTTCAAAAGTCACAGC	0.502												
IRF6	3664	broad.mit.edu	37	1	209961847	209961847	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:209961847C>T	uc001hhq.2	-	8	1626	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	IRF6_uc010psm.2_Missense_Mutation_p.R346H	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	441					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGAAGGATGCGGTACAGCTG	0.557										HNSCC(57;0.16)		
CDH23	64072	broad.mit.edu	37	10	73375274	73375274	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:73375274C>G	uc001jrx.4	+	9	1236	c.846C>G	c.(844-846)agC>agG	p.S282R	CDH23_uc001jrw.4_Missense_Mutation_p.S282R|CDH23_uc001jry.3_Missense_Mutation_p.S282R|CDH23_uc001jrz.3_Missense_Mutation_p.S282R|CDH23_uc021psl.1_Missense_Mutation_p.S282R|CDH23_uc009xql.3_Missense_Mutation_p.S282R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	282	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATACCAACAGCATCTTTGCCC	0.607												
DHX32	55760	broad.mit.edu	37	10	127541113	127541113	+	Silent	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:127541113T>C	uc001ljf.1	-	5	1683	c.1192_splice	c.e5+1	p.G398_splice	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Splice_Site_p.G22_splice|DHX32_uc001ljg.1_Splice_Site_p.G398_splice|DHX32_uc009yam.1_Splice_Site_p.G153_splice	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	398						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCACTACCTGAAGAAGATG	0.433												
PNPLA2	57104	broad.mit.edu	37	11	824015	824015	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:824015G>A	uc001lrt.3	+	7	1140	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	PNPLA2_uc009ycl.3_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.	313					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCCTGCGTGGAGCCCAC	0.716												
OR5D16	390144	broad.mit.edu	37	11	55606777	55606777	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:55606777T>C	uc010rio.2	+	0	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGTGAGTTATCCTCCCTGAT	0.418												
UVRAG	7405	broad.mit.edu	37	11	75852116	75852116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:75852116G>T	uc001oxc.3	+	14	2000	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	UVRAG_uc010rrw.2_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.3_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.2_Nonsense_Mutation_p.E143*	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	587					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAACAAGGAGAAGCCCTCTC	0.577												
RACGAP1	29127	broad.mit.edu	37	12	50387942	50387942	+	Silent	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:50387942G>C	uc001rvt.2	-	13	1621	c.1311C>G	c.(1309-1311)cgC>cgG	p.R437R	RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	437	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCTGTTAAGGCGAAAGGTCA	0.403												
LRP1	4035	broad.mit.edu	37	12	57571370	57571370	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:57571370G>A	uc001snd.3	+	25	4823	c.4357G>A	c.(4357-4359)Gcc>Acc	p.A1453T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1453					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGGATTGACGCCAGGTCAGC	0.657												
CLIP1	6249	broad.mit.edu	37	12	122839754	122839754	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:122839754G>A	uc001ucg.2	-	5	1266	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	371					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCAGATCCCGTTCCGCCAGC	0.632												
TMEM132D	121256	broad.mit.edu	37	12	129694161	129694161	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:129694161G>A	uc009zyl.1	-	4	1675	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	449						integral to membrane		p.A449V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCGGGACGGCCACCGTCT	0.572												
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr14:21109809G>A	uc001vxv.1	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453												
VPS18	57617	broad.mit.edu	37	15	41191139	41191139	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:41191139G>A	uc001zne.3	+	2	607	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	90					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCAACCACGTGGAGCTGGG	0.488												
SLC30A4	7782	broad.mit.edu	37	15	45814527	45814527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:45814527C>T	uc001zvj.3	-	1	338	c.26G>A	c.(25-27)cGc>cAc	p.R9H	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	9					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652												
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	Missense_Mutation	SNP	C	C	G	rs56290535	by1000genomes	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:78208916C>G	uc010bky.2	-	13	1581	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCCAGATGTTCTCCTCCATCT	0.627												
SHCBP1	79801	broad.mit.edu	37	16	46615749	46615749	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr16:46615749C>T	uc002eec.4	-	12	1951	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	637										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTTGCGTGATCCCCAGTTCAC	0.433												
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Silent	SNP	C	C	T	rs55863639		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:7579312C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; 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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)		
MYH2	4620	broad.mit.edu	37	17	10432722	10432722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:10432722A>T	uc010coi.3	-	24	3322	c.3194T>A	c.(3193-3195)tTg>tAg	p.L1065*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1065					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCAACTTCAAGTCACCCTC	0.373												
NR1D1	9572	broad.mit.edu	37	17	38252312	38252312	+	Silent	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:38252312T>C	uc002htz.2	-	4	1259	c.633A>G	c.(631-633)cgA>cgG	p.R211R	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	211					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTGCTTCTCTCGTTTGGGGA	0.562												
KRT17	3872	broad.mit.edu	37	17	39780481	39780481	+	Missense_Mutation	SNP	C	C	T	rs28928897		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:39780481C>T	uc002hxh.2	-	0	402	c.281G>A	c.(280-282)cGc>cAc	p.R94H	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R94H	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM).|R -> H (in SM).|R -> P (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.627												
HELZ	9931	broad.mit.edu	37	17	65157047	65157047	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:65157047C>T	uc010wqk.2	-	15	2228	c.2041G>A	c.(2041-2043)Gct>Act	p.A681T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A681T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGACAGCCTGAGCTAGA	0.493												
EPB41L3	23136	broad.mit.edu	37	18	5434010	5434010	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr18:5434010T>C	uc002kmt.1	-	6	802	c.716A>G	c.(715-717)gAc>gGc	p.D239G	EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	239	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G238R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGGTCATAGTCTCCGAGCTC	0.522												
MFSD12	126321	broad.mit.edu	37	19	3547922	3547922	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr19:3547922G>C	uc002lxw.3	-	3	931	c.761C>G	c.(760-762)aCc>aGc	p.T254S	MFSD12_uc002lxx.3_Missense_Mutation_p.T254S|MFSD12_uc002lxy.3_Missense_Mutation_p.T245S|MFSD12_uc002lxz.3_Missense_Mutation_p.T254S	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	254					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAACAGGGGGGTGTGCTCGCC	0.711												
RPSA	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	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												
ST6GAL2	84620	broad.mit.edu	37	2	107459661	107459661	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:107459661C>T	uc002tdq.3	-	1	892	c.773G>A	c.(772-774)cGc>cAc	p.R258H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	258					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACGCGCGCGCGGCTCCGCAG	0.736												
PSD4	23550	broad.mit.edu	37	2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	rs140435814	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:113950118G>A	uc002tjc.3	+	5	1973	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	597	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597												
INPP5D	3635	broad.mit.edu	37	2	234112804	234112804	+	Missense_Mutation	SNP	C	C	T	rs142742228	by1000genomes	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:234112804C>T	uc010zmo.2	+	24	3074	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	INPP5D_uc010zmp.2_Missense_Mutation_p.T973M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1003	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGGGGACACGCTGCCTCAG	0.602												
CABIN1	23523	broad.mit.edu	37	22	24452748	24452748	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr22:24452748G>A	uc002zzi.1	+	9	1314	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	CABIN1_uc021wnc.1_Missense_Mutation_p.R346H|CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.2_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.2_Missense_Mutation_p.R351H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	396					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGTCTGCCCGTGTCCGAAAC	0.448												
TRIM71	131405	broad.mit.edu	37	3	32933302	32933302	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:32933302A>G	uc003cff.3	+	3	2669	c.2606A>G	c.(2605-2607)tAa>tGa	p.*869*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	0					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTCTTCTAATTGCATTTC	0.488												
SI	6476	broad.mit.edu	37	3	164733001	164733001	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:164733001A>G	uc003fei.3	-	32	3972	c.3909T>C	c.(3907-3909)aaT>aaC	p.N1303N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1303	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTTTGTTTCATTTCCTGAAA	0.348										HNSCC(35;0.089)		
NDST4	64579	broad.mit.edu	37	4	115998231	115998231	+	Translation_Start_Site	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:115998231G>A	uc003ibu.3	-	1					NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCAATTTCGTTTCCTAAAG	0.338												
TRIML2	205860	broad.mit.edu	37	4	189012730	189012730	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:189012730C>T	uc011cle.1	-	7	1408	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc003izl.2_Missense_Mutation_p.G321S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	321							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAAAACGCCAACTGTGTCC	0.517												
ADAMTS6	11174	broad.mit.edu	37	5	64520167	64520167	+	Missense_Mutation	SNP	G	G	A	rs143194045		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:64520167G>A	uc003jtp.3	-	17	3066	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	751	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTTTGACATGGCAACTTCTCT	0.408												
PCDHAC2	56146	broad.mit.edu	37	5	140176553	140176553	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:140176553G>A	uc003lhd.2	+	0	2110	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S668S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652												
TRIM26	7726	broad.mit.edu	37	6	30164404	30164404	+	Silent	SNP	C	C	T	rs137972961		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:30164404C>T	uc003npr.3	-	4	863	c.654G>A	c.(652-654)acG>acA	p.T218T	TRIM26_uc003nps.3_Silent_p.T218T|TRIM26_uc003npt.3_Silent_p.T218T|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	218							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CCCTGCCCTCCGTGAGCTCCT	0.642												
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:100911318C>T	uc003pqj.4	-	0	494	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423												
FNDC1	84624	broad.mit.edu	37	6	159655381	159655381	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:159655381G>A	uc010kjv.3	+	10	4037	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	FNDC1_uc010kjw.1_Silent_p.P1164P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1279						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTGGCCGCAGTACACCA	0.701												
CHN2	1124	broad.mit.edu	37	7	29438049	29438049	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:29438049C>T	uc003szz.3	+	4	674	c.237C>T	c.(235-237)gcC>gcT	p.A79A	CHN2_uc011jzs.2_Silent_p.A154A|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.A44A|CHN2_uc011jzt.2_Silent_p.A92A|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Silent_p.A64A	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	79	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGAGGGTGCCTACATCCTTA	0.522												
ASB4	51666	broad.mit.edu	37	7	95115358	95115358	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:95115358A>G	uc011kij.2	+	0	146	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ASB4_uc003unx.3_Silent_p.L25L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	25					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAGGCGCTAAAGTCCAATG	0.438												
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:131195806_131195807insG	uc003vqw.4	-	1	744_745	c.486_487insC	c.(484-489)agcagcfs	p.S162fs	PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535												
ANK1	286	broad.mit.edu	37	8	41566469	41566469	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:41566469C>T	uc003xok.3	-	16	1909	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.A609T|ANK1_uc003xoj.3_Missense_Mutation_p.A609T|ANK1_uc003xol.3_Missense_Mutation_p.A609T|ANK1_uc003xom.3_Missense_Mutation_p.A642T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	609	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A609T(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTTGGCAGCGATGTGCAAA	0.582												
ATP6V0D2	245972	broad.mit.edu	37	8	87162356	87162356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:87162356C>T	uc003ydp.1	+	5	724	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	219					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCGACAGACGTGCTTTTAT	0.408												
ADAMTSL1	92949	broad.mit.edu	37	9	18777555	18777555	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr9:18777555C>T	uc003zne.4	+	18	3480	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1110						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGATCTTCCGCAGCCACCT	0.647												
DCAF8L2	347442	broad.mit.edu	37	X	27765562	27765562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:27765562C>T	uc011mjy.2	+	0	637	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCCTGCCCCGACCTCGCTG	0.612												
ZNF630	57232	broad.mit.edu	37	X	47918931	47918931	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:47918931G>C	uc004div.4	-	4	1152	c.900C>G	c.(898-900)ttC>ttG	p.F300L	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.F286L|ZNF630_uc022bvs.1_Missense_Mutation_p.F300L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTTCTCACTGAAGGCTTTCC	0.413												
DCX	1641	broad.mit.edu	37	X	110644549	110644549	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:110644549T>G	uc004epd.3	-	2	789	c.617A>C	c.(616-618)tAt>tCt	p.Y206S	DCX_uc011msv.2_Missense_Mutation_p.Y206S|DCX_uc004epe.3_Missense_Mutation_p.Y125S|DCX_uc004epf.3_Missense_Mutation_p.Y125S|DCX_uc004epg.3_Missense_Mutation_p.Y125S	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	206	Doublecortin 1.		Y -> D (in SBHX).|Y -> H (in LISX1 and SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.Y206F(2)|p.Y125F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378												
AIFM1	9131	broad.mit.edu	37	X	129264005	129264005	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:129264005G>T	uc004evg.3	-	14	1941	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	AIFM1_uc011mur.2_Missense_Mutation_p.D218E|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.D566E|AIFM1_uc004evi.3_Missense_Mutation_p.D283E|AIFM1_uc004evk.3_Missense_Mutation_p.D218E	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	570					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CGACCACTTTGTCCCTGAGGT	0.517												
ATP6AP1	537	broad.mit.edu	37	X	153663708	153663708	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:153663708G>A	uc004flf.1	+	8	1121	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	354					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTCCGTCGCCTACTTCAA	0.597												
