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
CEP104	9731	broad.mit.edu	37	1	3732029	3732029	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:3732029G>C	uc001aky.2	-	21	3074	c.2715C>G	c.(2713-2715)agC>agG	p.S905R	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	905						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGGGATCTTGCTTCCGGCCT	0.642												
TNFRSF8	943	broad.mit.edu	37	1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	rs148756853		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:12164492C>T	uc001atq.3	+	3	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	109					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGAATGTCGACCCGGCAT	0.577												
DPH2	1802	broad.mit.edu	37	1	44437537	44437537	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:44437537G>T	uc001ckz.3	+	3	1158	c.963G>T	c.(961-963)cgG>cgT	p.R321R	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.R186R|DPH2_uc001clb.3_Silent_p.R245R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	321					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGGGGCGGCCCACCCCTG	0.607												
PTGFR	5737	broad.mit.edu	37	1	79002163	79002163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:79002163C>T	uc001din.3	+	2	1137	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	291					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R291R(1)|p.R290M(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTTGCTCTCCGAATGGCAAC	0.388												
HRNR	388697	broad.mit.edu	37	1	152193260	152193260	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152193260C>G	uc001ezt.1	-	2	921	c.845G>C	c.(844-846)aGc>aCc	p.S282T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	282					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCATAGCTGGAAGACGA	0.587												
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152681693_152681698delTGTGGT	uc001fak.2	+	0	171_176	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	Homo sapiens late cornified envelope 4A (LCE4A), mRNA.	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578												
IQGAP3	128239	broad.mit.edu	37	1	156518190	156518190	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:156518190G>C	uc001fpf.3	-	17	2158	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	695					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCAGGAGGTTGCTCCCAG	0.557												
ASPM	259266	broad.mit.edu	37	1	197061071	197061071	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:197061071G>T	uc001gtu.3	-	21	9667	c.9410C>A	c.(9409-9411)gCt>gAt	p.A3137D	ASPM_uc001gtv.3_Missense_Mutation_p.A1552D|ASPM_uc001gtw.4_Missense_Mutation_p.A985D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3137					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCTTGTTAGCATTCTTCAC	0.338												
OR2W5	441932	broad.mit.edu	37	1	247654810	247654810	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:247654810C>T	uc001icz.2	+	0	441	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCGTCTGCCGGTCCCTGC	0.587												
TRIM58	25893	broad.mit.edu	37	1	248039235	248039235	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248039235C>T	uc001ido.3	+	5	953	c.905C>T	c.(904-906)cCg>cTg	p.P302L	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	302	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGGCGCACCCGAGTCTGCTC	0.557												
OR2L3	391192	broad.mit.edu	37	1	248224640	248224640	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248224640G>T	uc001idx.1	+	0	657	c.657G>T	c.(655-657)cgG>cgT	p.R219R	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.498												
OR2G6	391211	broad.mit.edu	37	1	248685400	248685400	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248685400C>T	uc001ien.1	+	0	453	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCTCAGCGGCCTCATCA	0.577												
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7605143G>A	uc021pmv.1	-	13	2838	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_uc021pmu.1_Missense_Mutation_p.A697V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522												
ITIH5	80760	broad.mit.edu	37	10	7659109	7659109	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7659109G>T	uc021pmv.1	-	5	895	c.789C>A	c.(787-789)gaC>gaA	p.D263E	ITIH5_uc021pmu.1_Missense_Mutation_p.D49E|ITIH5_uc001ijr.2_Missense_Mutation_p.D263E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	263					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTATTGACGTCATATCTAA	0.388												
CYP2C19	1562	broad.mit.edu	37	10	96447617	96447617	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:96447617C>T	uc001kjv.4	+	1	585	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	CYP2C19_uc001kjw.4_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	87					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGGAGGCCCTGATTGATCA	0.433												
SOX6	55553	broad.mit.edu	37	11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:16007846C>T	uc001mme.3	-	14	2159	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	SOX6_uc001mmd.3_Missense_Mutation_p.R672H|SOX6_uc001mmf.3_Missense_Mutation_p.R669H|SOX6_uc001mmg.3_Missense_Mutation_p.R676H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	696					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G708V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AATGCAGGTGCGTTTCGGTCG	0.473												
MRGPRX3	117195	broad.mit.edu	37	11	18158842	18158842	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:18158842G>A	uc021qek.1	+	0	93	c.93G>A	c.(91-93)acG>acA	p.T31T	MRGPRX3_uc001mnu.3_Silent_p.T31T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGCTTCACGGGGCTGACGT	0.567												
MYBPC3	4607	broad.mit.edu	37	11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:47360181C>T	uc021qis.1	-	22	2253	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_uc021qir.1_Missense_Mutation_p.R385H|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	732	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632												
OR4B1	119765	broad.mit.edu	37	11	48238965	48238965	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:48238965G>A	uc010rhs.2	+	0	604	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCAACAGTGGATTATTCTC	0.473												
RTN4RL2	349667	broad.mit.edu	37	11	57235097	57235097	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57235097G>C	uc010rjt.2	+	1	47	c.47G>C	c.(46-48)tGc>tCc	p.C16S		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	16					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCTCGGCCTGCCTCCTGCTG	0.682												
OR1S1	219959	broad.mit.edu	37	11	57982381	57982381	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57982381C>T	uc010rkc.2	+	0	165	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGATTGGGAACGGGCTCATCA	0.443												
MS4A3	932	broad.mit.edu	37	11	59837091	59837091	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:59837091C>T	uc001nom.3	+	5	686	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MS4A3_uc001non.3_Silent_p.C140C|MS4A3_uc001noo.3_Silent_p.C63C	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	186						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.C186C(2)|p.L185S(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGAATTATGCGTAACCATCT	0.413												
POLD4	57804	broad.mit.edu	37	11	67120265	67120265	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:67120265G>A	uc001okm.3	-	2	378	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.	66					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CGCTGCAGCCGTGTGATCCCT	0.637												
MTNR1B	4544	broad.mit.edu	37	11	92714860	92714860	+	Silent	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:92714860C>A	uc001pdk.1	+	1	574	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	157					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTGGCACACCCCTCTGCACA	0.572												
CWF19L2	143884	broad.mit.edu	37	11	107200691	107200691	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:107200691C>T	uc010rvp.2	-	16	2524	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	832							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGACATGGGCAAACCCTCCG	0.383												
PRPF40B	25766	broad.mit.edu	37	12	50030600	50030600	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:50030600C>T	uc001rur.1	+	14	1525	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	488					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGGAGCGACGCCAACAACG	0.562											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CELA1	1990	broad.mit.edu	37	12	51723540	51723540	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:51723540G>A	uc001ryi.1	-	6	728	c.687C>T	c.(685-687)agC>agT	p.S229S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	229	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TACAGCCCCGGCTGGACACAA	0.512												
STAT2	6773	broad.mit.edu	37	12	56748251	56748251	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:56748251A>G	uc001slc.3	-	8	985	c.782_splice	c.e8+1	p.W261_splice	STAT2_uc001sld.3_Splice_Site_p.W257_splice|STAT2_uc010sqn.2_Splice_Site_p.W257_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	261					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTCTCACCATGTCTCCAGC	0.527												
UTP20	27340	broad.mit.edu	37	12	101750729	101750729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:101750729C>A	uc001tia.1	+	42	5716	c.5560C>A	c.(5560-5562)Ctc>Atc	p.L1854I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1854					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|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 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTGCCCTACTCAAGAACAG	0.363												
TMEM132B	114795	broad.mit.edu	37	12	125834519	125834519	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:125834519G>A	uc001uhe.1	+	1	582	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E82K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	192						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)		GCTGCTGCCCGAGTGGTTCAG	0.632												
RB1	5925	broad.mit.edu	37	13	49039351	49039351	+	Nonsense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:49039351T>A	uc001vcb.3	+	22	2502	c.2336T>A	c.(2335-2337)tTg>tAg	p.L779*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCTACCTTGTCACCAATA	0.398		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473												
RNF31	55072	broad.mit.edu	37	14	24627141	24627141	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:24627141C>A	uc001wmn.1	+	16	3011	c.2762C>A	c.(2761-2763)tCc>tAc	p.S921Y	RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.S105Y|IRF9_uc001wmq.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	921					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGAAAAAGTCCCTGCACGGC	0.587												
CEP128	145508	broad.mit.edu	37	14	81329142	81329142	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:81329142G>A	uc001xux.2	-	7	892	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CEP128_uc001xuz.2_Missense_Mutation_p.R241C|CEP128_uc001xuy.1_Missense_Mutation_p.R99C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	241						centriole|spindle pole		p.R241C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCTGGCGTCTTTCCACC	0.463												
FLRT2	23768	broad.mit.edu	37	14	86088466	86088466	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:86088466T>C	uc021rxf.1	+	0	608	c.608T>C	c.(607-609)cTc>cCc	p.L203P	FLRT2_uc001xvr.3_Missense_Mutation_p.L203P|FLRT2_uc010atd.3_Missense_Mutation_p.L203P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCAGAATCTCACGAGCTTG	0.522												
GATM	2628	broad.mit.edu	37	15	45668979	45668979	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:45668979G>T	uc001zvc.3	-	1	437	c.108C>A	c.(106-108)ttC>ttA	p.F36L	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	36					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGTGCTCTGGAAAGTTCGCT	0.512												
MEGF11	84465	broad.mit.edu	37	15	66191203	66191203	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:66191203G>T	uc002apm.2	-	21	2978	c.2837C>A	c.(2836-2838)aCa>aAa	p.T946K	MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	946						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCCTTAATTGTGGCGTAAGG	0.468												
PGPEP1L	145814	broad.mit.edu	37	15	99512679	99512679	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:99512679C>T	uc002bum.3	-	3	646	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	PGPEP1L_uc010bop.3_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.3_Missense_Mutation_p.V62M	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	116					proteolysis		cysteine-type peptidase activity	p.D115N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAAAAGATCACGTCGACACCC	0.627												
TMEM219	124446	broad.mit.edu	37	16	29979390	29979390	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:29979390A>G	uc002duw.2	+	3	567	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_Non-coding_Transcript	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.	134						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CAGGGTGACCACAGAAAGGAC	0.527												
SNX20	124460	broad.mit.edu	37	16	50707501	50707501	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:50707501C>T	uc002egk.2	-	3	940	c.767G>A	c.(766-768)cGc>cAc	p.R256H	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	256					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.R256H(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCTGCAGGCGCTGCAGGGC	0.741												
CPNE2	221184	broad.mit.edu	37	16	57153520	57153520	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:57153520C>T	uc010cct.2	+	7	1064	c.717C>T	c.(715-717)ccC>ccT	p.P239P	CPNE2_uc002eks.2_Silent_p.P213P|CPNE2_uc010ccu.2_Silent_p.P213P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	213	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCACAGTGCCCTTGGTGTCCC	0.617												
PKD1L2	114780	broad.mit.edu	37	16	81181065	81181065	+	Missense_Mutation	SNP	C	C	T	rs113696594		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:81181065C>T	uc002fgh.1	-	29	5026	c.5026G>A	c.(5026-5028)Gcc>Acc	p.A1676T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1676					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCCAAGGCGGGGGATGGC	0.547												
GPS2	84461	broad.mit.edu	37	17	7220634	7220634	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7220634G>A	uc002gga.1	-	27	4381	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1456F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	138					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CAGGCTCCTCGAACCCTACCC	0.607												
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7577138C>G	uc002gim.2	-	7	994	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|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.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)		
SLC47A2	146802	broad.mit.edu	37	17	19618087	19618087	+	Missense_Mutation	SNP	C	C	T	rs148775490	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:19618087C>T	uc002gwe.4	-	2	416	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SLC47A2_uc002gwg.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	81						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					ACAGAAACTCCGCAGACATTG	0.587												
DHRS13	147015	broad.mit.edu	37	17	27228288	27228288	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:27228288C>T	uc002hde.4	-	3	529	c.402G>A	c.(400-402)gcG>gcA	p.A134A	DHRS13_uc002hdd.4_Silent_p.A84A|DHRS13_uc010wba.2_Silent_p.A53A	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	134						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCAGGTTAAACGCCTCACGGG	0.592												
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:56582201C>T	uc002iwj.2	-	11	1348	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	413	Myotubularin phosphatase.|Substrate binding (By similarity).					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532												
AXIN2	8313	broad.mit.edu	37	17	63553948	63553948	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:63553948G>A	uc002jfi.3	-	1	1080	c.791C>T	c.(790-792)aCg>aTg	p.T264M	AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.3_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	264					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGTTTCCGTGGACCTCAC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
EMR3	84658	broad.mit.edu	37	19	14785604	14785604	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:14785604C>T	uc002mzi.4	-	0					EMR3_uc010dzp.3_5'UTR|EMR3_uc010xnv.2_5'UTR	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTATCCCACGCCAGCCAGC	0.507												
F2RL3	9002	broad.mit.edu	37	19	17000950	17000950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:17000950G>A	uc002nfa.3	+	1	851	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	226					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGATCGCGTGCTCTGCCA	0.701												
FFAR3	2865	broad.mit.edu	37	19	35849928	35849928	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:35849928C>T	uc002nzd.3	+	1	211	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	FFAR3_uc021usm.1_Missense_Mutation_p.R46C	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R46R(1)|p.R45H(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCAGCGCCGCCCGGTGGC	0.637												
ZNF229	7772	broad.mit.edu	37	19	44932920	44932920	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:44932920G>A	uc002oze.1	-	5	2470	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512												
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:52942354A>G	uc002pzk.3	+	3	1747	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433												
EHD3	30845	broad.mit.edu	37	2	31484475	31484475	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:31484475A>T	uc002rnu.3	+	4	1584	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	326					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGGGAAGGACAACAAGAAGAA	0.552												
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	A	rs146251151		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:116497460G>A	uc002tle.3	+	8	876	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DPP10_uc002tla.2_Silent_p.P281P|DPP10_uc002tlb.2_Silent_p.P231P|DPP10_uc002tlc.2_Silent_p.P277P|DPP10_uc002tlf.2_Silent_p.P274P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423												
UGGT1	56886	broad.mit.edu	37	2	128939777	128939777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:128939777G>T	uc002tps.3	+	36	4335	c.4157G>T	c.(4156-4158)tGt>tTt	p.C1386F	UGGT1_uc002tpr.3_Missense_Mutation_p.C1362F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1386	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCCTTTCTGTGACAGCCGA	0.418												
GCA	25801	broad.mit.edu	37	2	163204170	163204170	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:163204170G>C	uc002ucg.3	+	1	286	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	37					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	p.G37*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTCCTCGATGGATACTCTGGG	0.463												
TTN	7273	broad.mit.edu	37	2	179598493	179598493	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:179598493A>G	uc021vsy.1	-	49	12116	c.11891T>C	c.(11890-11892)aTc>aCc	p.I3964T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4891							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTCTCTGATGACCTCTTG	0.448												
GLS	2744	broad.mit.edu	37	2	191765419	191765419	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:191765419G>A	uc002usf.2	+	4	999	c.735_splice	c.e4+1	p.K245_splice	GLS_uc002use.2_Splice_Site_p.K245_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	245					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGAGGAAAGGTAATGCTTT	0.323												
ZNFX1	57169	broad.mit.edu	37	20	47887010	47887010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:47887010G>A	uc002xui.3	-	2	1586	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	447							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGAGCAATCGTTTGGAATTC	0.468												
PRIC285	85441	broad.mit.edu	37	20	62200284	62200284	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:62200284G>A	uc002yfm.2	-	5	2049	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	386					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCCGGAGGCGCGAAGAGCAT	0.677												
SPECC1L	23384	broad.mit.edu	37	22	24807598	24807598	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr22:24807598C>T	uc002zzw.3	+	14	3433	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L_uc002zzv.4_Silent_p.L1044L|SPECC1L_uc011ajq.2_Intron|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_Silent_p.L110L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	1044	CH.				cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493												
RBMS3	27303	broad.mit.edu	37	3	30032601	30032601	+	Missense_Mutation	SNP	C	C	G	rs143165101		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:30032601C>G	uc003cel.3	+	13	1578	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	RBMS3_uc010hfq.3_Missense_Mutation_p.T400R|RBMS3_uc003cek.3_Missense_Mutation_p.T387R|RBMS3_uc010hfr.3_Missense_Mutation_p.T387R|RBMS3_uc003cem.3_Missense_Mutation_p.T385R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	403						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCTCCCCAGACAGTGGCACCT	0.483												
CCR9	10803	broad.mit.edu	37	3	45942421	45942421	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:45942421G>A	uc003coz.2	+	2	321	c.141G>A	c.(139-141)gcG>gcA	p.A47A	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.A35A|CCR9_uc003cpa.2_Silent_p.A35A|CCR9_uc021wwv.1_Silent_p.A35A	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	47					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGCAGTTTGCGAGCCATTTCC	0.468												
STAB1	23166	broad.mit.edu	37	3	52540233	52540233	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:52540233G>A	uc003dej.3	+	16	1871	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	STAB1_uc003dei.1_Silent_p.A599A	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	599	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A599A(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622												
GCET2	257144	broad.mit.edu	37	3	111852081	111852081	+	Translation_Start_Site	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:111852081G>A	uc021xcl.1	-	0					GCET2_uc003dys.2_5'UTR|GCET2_uc021xcm.1_5'UTR	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCCACCCGTGCAGAGACA	0.557												
STXBP5L	9515	broad.mit.edu	37	3	120764376	120764376	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:120764376G>A	uc003eec.4	+	4	604	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R155Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	155					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R155L(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATTTAACCGGGAACGGTAA	0.358												
MECOM	2122	broad.mit.edu	37	3	168833869	168833869	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:168833869C>T	uc011bpj.1	-	7	2194	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc003ffi.3_Silent_p.S409S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpk.1_Silent_p.S409S|MECOM_uc010hwn.2_Silent_p.S597S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATCAGAGCCCGAGGTTGTTT	0.423												
ACAP2	23527	broad.mit.edu	37	3	195102729	195102729	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195102729A>G	uc003fun.4	-	2	375	c.134T>C	c.(133-135)aTg>aCg	p.M45T	ACAP2_uc003fuo.3_Missense_Mutation_p.M45T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	45	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGTATCAATCATTGCAATACA	0.343												
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195597005_195597006insG	uc003fvu.1	-	10	2065_2066	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	508				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614												
GPR78	27201	broad.mit.edu	37	4	8583361	8583361	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:8583361G>A	uc003glk.3	+	0	1145	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	218					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCGCTGCTCGCCGACCTGCA	0.687												
FGB	2244	broad.mit.edu	37	4	155487823	155487823	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:155487823A>T	uc003ioa.4	+	3	529	c.490_splice	c.e3+1	p.D164_splice	FGB_uc010ipu.1_Splice_Site|FGB_uc010ipv.3_Splice_Site_p.D105_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	164		Cleavage; by plasmin; to break down fibrin clots.			platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAAGTAAAAGGTAGATATC	0.403												
C5orf42	65250	broad.mit.edu	37	5	37167302	37167302	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:37167302T>A	uc011cpa.1	-	34	7478	c.7247A>T	c.(7246-7248)cAa>cTa	p.Q2416L	C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2416										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAAGTTGTGTTTTTTT	0.313												
C7	730	broad.mit.edu	37	5	40976859	40976859	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:40976859G>A	uc003jmh.3	+	15	2196	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	694					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TAGAAAATCCGTTAACACAGG	0.433												
ACTBL2	345651	broad.mit.edu	37	5	56778318	56778318	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:56778318C>T	uc003jrm.3	-	0	319	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	73						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACTCCATGCTCGATAGGATAC	0.542												
GPR98	84059	broad.mit.edu	37	5	89990447	89990447	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:89990447G>A	uc003kju.3	+	32	7970	c.7874G>A	c.(7873-7875)cGt>cAt	p.R2625H	GPR98_uc003kjt.3_Missense_Mutation_p.R331H|GPR98_uc003kjv.3_Missense_Mutation_p.R225H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2625					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCGAATGGCGTGTTGTTGGT	0.473												
PCDHAC2	56146	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140176747C>T	uc003lhd.2	+	0	2304	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A733V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	752					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682												
PCDHGC5	56104	broad.mit.edu	37	5	140730079	140730079	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140730079C>T	uc003ljo.2	+	0	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N84N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N84N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGAACGGTAGGATAG	0.473											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM71B	153745	broad.mit.edu	37	5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:156592869C>T	uc003lwn.3	-	0	411	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	104						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542												
RANBP17	64901	broad.mit.edu	37	5	170725815	170725815	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:170725815C>T	uc003mba.3	+	27	3362	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	RANBP17_uc003mbb.3_Missense_Mutation_p.R399C|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1074					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGCGTTGCGCAGTGATGG	0.502			T	TRD@	ALL							
FBXW11	23291	broad.mit.edu	37	5	171299943	171299943	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:171299943G>A	uc003mbm.1	-	8	1581	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	404					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R404Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAATGCCCCGCTTGTGCCCA	0.463												
BCLAF1	9774	broad.mit.edu	37	6	136597406	136597406	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr6:136597406C>A	uc003qgx.1	-	4	1510	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	419					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418												
CDK13	8621	broad.mit.edu	37	7	40127783	40127783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:40127783C>T	uc003thh.4	+	11	3370	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	CDK13_uc003thi.4_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.3_Nonsense_Mutation_p.Q81*	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1030					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.K1029K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGACAGAAGCAGATGGGCAT	0.423												
ABCA13	154664	broad.mit.edu	37	7	48287917	48287917	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:48287917C>G	uc003toq.2	+	13	1765	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ABCA13_uc010kyr.2_Missense_Mutation_p.L84V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	581					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGCAGGAACTTGAGATGCA	0.428												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PSPH	5723	broad.mit.edu	37	7	56088826	56088826	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:56088826C>G	uc003trj.3	-	1	482	c.167G>C	c.(166-168)aGa>aCa	p.R56T	PSPH_uc003trh.3_Missense_Mutation_p.R27T|PSPH_uc003tri.3_Missense_Mutation_p.R27T	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	27					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCTTCTTCTCTGATGACCGT	0.448												
ZNF735	730291	broad.mit.edu	37	7	63680236	63680236	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:63680236C>T	uc011kdn.2	+	3	807	c.807C>T	c.(805-807)taC>taT	p.Y269Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGAAACCCTACGCATGTGAAG	0.458												
ZNF107	51427	broad.mit.edu	37	7	64167281	64167281	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:64167281C>A	uc003ttd.3	+	6	1385	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF107_uc003tte.3_Missense_Mutation_p.A200D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTAAACAGGCCTCACACCTT	0.373												
MAGI2	9863	broad.mit.edu	37	7	77807399	77807399	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:77807399C>T	uc003ugx.3	-	13	2586	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	MAGI2_uc003ugy.3_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	778	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGATGAACATCCAATTCCTTA	0.453												
PCLO	27445	broad.mit.edu	37	7	82582560	82582560	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:82582560G>A	uc003uhx.2	-	4	7998	c.7709C>T	c.(7708-7710)cCa>cTa	p.P2570L	PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2501					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAAATCTTGGTGAAGACTT	0.403												
GRM3	2913	broad.mit.edu	37	7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416220G>A	uc003uid.3	+	2	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	371					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCACAGGCGCGTCTGCGAC	0.567												
GRM3	2913	broad.mit.edu	37	7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416334G>A	uc003uid.3	+	2	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_uc010lef.3_Missense_Mutation_p.R407H|GRM3_uc010leg.3_Missense_Mutation_p.R281H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	409					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAATGCAGCGCACCCTCTGT	0.498												
GRM3	2913	broad.mit.edu	37	7	86468918	86468918	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86468918C>T	uc003uid.3	+	3	3187	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I568I|GRM3_uc010leh.3_Silent_p.I288I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	696					synaptic transmission	integral to plasma membrane		p.I696T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGGTCTGATCCTGGTGCAAA	0.527												
STEAP1	26872	broad.mit.edu	37	7	89791325	89791325	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:89791325T>C	uc003ujx.3	+	3	895	c.695T>C	c.(694-696)cTg>cCg	p.L232P	STEAP1_uc010lem.3_Missense_Mutation_p.L232P	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	232	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATACTGGCTCTGTTGGCTGTG	0.378												
TRPV5	56302	broad.mit.edu	37	7	142611855	142611855	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:142611855G>A	uc003wby.1	-	11	1738	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	492					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCAGAAACGCATTAGGTCT	0.463												
GATA4	2626	broad.mit.edu	37	8	11607623	11607623	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:11607623G>A	uc011kxc.1	+	2	1247	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc003wuc.2_Missense_Mutation_p.A263T	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	263					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTTGCAGTCCGCCTCCCGCCG	0.637												
ENPP2	5168	broad.mit.edu	37	8	120629759	120629759	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:120629759C>T	uc003yos.2	-	5	610	c.524G>A	c.(523-525)cGt>cAt	p.R175H	ENPP2_uc010mdd.2_Missense_Mutation_p.R175H|ENPP2_uc003yot.2_Missense_Mutation_p.R175H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	175					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGATGCACGGAAGCCATC	0.373												
BAI1	575	broad.mit.edu	37	8	143625027	143625027	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:143625027C>T	uc003ywm.3	+	28	4698	c.4515C>T	c.(4513-4515)caC>caT	p.H1505H		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1505	Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGCAGCACGCAGCGGAGA	0.662												
SPATA31C2	645961	broad.mit.edu	37	9	90746228	90746228	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:90746228A>T	uc011lti.2	-	3	1753	c.1724T>A	c.(1723-1725)aTc>aAc	p.I575N		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	575																	GGCTTTCAGGATGTTTTCTAT	0.522												
OR13C9	286362	broad.mit.edu	37	9	107379553	107379553	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:107379553C>T	uc011lvr.2	-	0	933	c.933G>A	c.(931-933)ccG>ccA	p.P311P		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L310I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACCTTCTGTTCGGTAGGTGTT	0.353												
PRRC2B	84726	broad.mit.edu	37	9	134350722	134350722	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:134350722G>A	uc004can.4	+	14	3261	c.3206G>A	c.(3205-3207)cGt>cAt	p.R1069H	PRRC2B_uc010mzj.1_Missense_Mutation_p.R652H|PRRC2B_uc004cao.4_Missense_Mutation_p.R427H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1069							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGCCGGGGCCGTGGTTTCAGA	0.612												
CEL	1056	broad.mit.edu	37	9	135945963	135945963	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:135945963G>A	uc010naa.1	+	9	1427	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	468					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGCCCTTCGCCACCCCCAC	0.582												
EGFL6	25975	broad.mit.edu	37	X	13624543	13624543	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chrX:13624543G>A	uc004cvj.3	+	5	853	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398												
