Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCDH18	54510	broad.mit.edu	37	4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	uc003ihe.4	-	2	3017	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_uc003ihf.4_Missense_Mutation_p.D869V|PCDH18_uc011cgz.2_Missense_Mutation_p.D88V|PCDH18_uc003ihg.4_Missense_Mutation_p.D656V|PCDH18_uc011cha.2_Missense_Mutation_p.D57V	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	877					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423000													79	288					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114290838	114290838	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:114290838C>T	uc003ibe.4	+	42	11587	c.11487C>T	c.(11485-11487)ccC>ccT	p.P3829P	ANK2_uc003ibd.4_Silent_p.P1735P|ANK2_uc003ibf.4_Silent_p.P1744P|ANK2_uc011cgc.2_Silent_p.P920P|ANK2_uc003ibg.4_Silent_p.P728P|ANK2_uc003ibh.4_Silent_p.P418P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3796					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAGAACCCGAAGAGCCCT	0.572000													4	36					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627000													5	309					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	50					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	uc003kqs.3	-	8	2331	c.1822G>A	c.(1822-1824)Gtt>Att	p.V608I	TRIM36_uc011cwc.2_Missense_Mutation_p.V596I|TRIM36_uc003kqt.3_Missense_Mutation_p.V453I	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	608	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.A607fs*27(4)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393000													22	81					0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4281393	4281393	+	Silent	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	uc011bvy.2	-	4	464	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_uc011bvx.2_5'Flank|LYAR_uc003ght.3_Silent_p.V107V	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	107						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418000													11	45					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	uc003ibu.3	-	1	1129	c.450A>C	c.(448-450)ttA>ttC	p.L150F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	150	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343000													5	74					0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57613627	57613627	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:57613627C>G	uc002yam.3	-	1	211	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SLMO2_uc021wfq.1_Non-coding_Transcript|SLMO2_uc021wfr.1_Intron|SLMO2_uc010zzv.2_Missense_Mutation_p.S32T	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Homo sapiens slowmo homolog 2 (Drosophila) (SLMO2), transcript variant 1, mRNA.	32	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TCCAACCACACTTGGGTTCAT	0.453000													4	199					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	uc001vxe.3	-	39	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_uc010ahk.3_Missense_Mutation_p.L1274F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L1823F|TEP1_uc010tlh.1_Missense_Mutation_p.L269F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1931					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547000													3	94					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124064268	124064268	+	Nonsense_Mutation	SNP	G	G	T	rs143781307		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:124064268G>T	uc004blf.1	+	1	233	c.172G>T	c.(172-174)Gag>Tag	p.E58*	GSN_uc004bld.1_Nonsense_Mutation_p.E7*|GSN_uc010mvr.1_Nonsense_Mutation_p.E18*|GSN_uc010mvq.1_Nonsense_Mutation_p.E18*|GSN_uc010mvu.1_Nonsense_Mutation_p.E7*|GSN_uc010mvt.1_Nonsense_Mutation_p.E7*|GSN_uc010mvs.1_Nonsense_Mutation_p.E7*|GSN_uc004ble.1_Nonsense_Mutation_p.E7*|GSN_uc010mvv.1_Nonsense_Mutation_p.E7*|GSN_uc011lyh.1_Nonsense_Mutation_p.E24*|GSN_uc011lyi.1_Nonsense_Mutation_p.E7*|GSN_uc011lyj.1_Nonsense_Mutation_p.E31*	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	58	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAACACCCCGAGTTCCTCAA	0.622000													3	94					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	uc003ktm.3	+	8	1593	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_uc003ktl.3_Missense_Mutation_p.R292G|CSNK1G3_uc003ktn.3_Missense_Mutation_p.R292G|CSNK1G3_uc003kto.3_Missense_Mutation_p.R292G|CSNK1G3_uc011cwr.2_Missense_Mutation_p.R217G|CSNK1G3_uc011cws.2_Missense_Mutation_p.R180G|CSNK1G3_uc010jda.3_Missense_Mutation_p.R293G	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	292	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259000													3	69					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061954	13061954	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	uc001rba.3	+	1	1421	c.771G>A	c.(769-771)ctG>ctA	p.L257L		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	257						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532000													11	30					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079565	34079565	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:34079565G>A	uc002hjv.2	-	0	333	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	102	CH.				cell cycle arrest	cytoplasm|cytoskeleton		p.G101R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCTGGGCGGCCCCATTGCA	0.622000													4	103					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	uc001muh.3	-	14	1517	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	451					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338000													29	66					0	0	1	0	0
SOX12	6666	broad.mit.edu	37	20	306756	306756	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	uc002wdh.3	+	0	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R		NM_006943	NP_008874	O15370	SOX12_HUMAN	Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA.	63					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662000													7	20					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764485	98764485	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:98764485G>A	uc001kmw.2	-	32	3927	c.3675C>T	c.(3673-3675)taC>taT	p.Y1225Y		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1225	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCCTGGGTCGTAGCTGACAC	0.607000													3	59					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	uc003duc.3	+	1	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	71					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388000													4	105					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	uc002tan.1	+	0	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	19					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537000													12	145					0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264445	5264445	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:5264445A>T	uc001mag.3	-	1	257	c.41T>A	c.(40-42)cTg>cAg	p.L14Q						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		GAAGGAGATCAGCACCTTCTT	0.498000													10	24					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317094	113317094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:113317094G>A	uc003ynu.3	-	51	8281	c.8122C>T	c.(8122-8124)Cga>Tga	p.R2708*	CSMD3_uc003yns.3_Nonsense_Mutation_p.R1910*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.R2668*|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2708	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACAATTCGCCATCTTCCA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	44					0	0	1	0	0
PAIP2	51247	broad.mit.edu	37	5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	uc003led.3	+	2	395	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_uc003lee.3_Missense_Mutation_p.W73L|PAIP2_uc003lef.3_Missense_Mutation_p.W73L	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2 (PAIP2), transcript variant 2, mRNA.	73	PABPC1-interacting motif-1 (PAM1).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388000													3	56					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	uc010wmr.2	+	11	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	537					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522000													19	45					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139793320	139793320	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320G>T	uc004cjv.3	+	1	185	c.128G>T	c.(127-129)aGg>aTg	p.R43M	TRAF2_uc010nbu.3_Missense_Mutation_p.R43M|TRAF2_uc010nbv.1_Missense_Mutation_p.R43M|TRAF2_uc011mek.2_Missense_Mutation_p.R43M|TRAF2_uc010nbw.3_Missense_Mutation_p.R43M	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	43					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	p.R43W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAG	0.667000													8	14					0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	uc002xvf.3	-	3	591	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Missense_Mutation_p.L144V|TMEM189-UBE2V1_uc010gif.2_Missense_Mutation_p.L141V|TMEM189-UBE2V1_uc010zyp.1_Missense_Mutation_p.L69V	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	144						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCGGCAGCAGTGTCACCAGG	0.627000													20	61					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849663	224849663	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:224849663C>T	uc010zlr.1	-	4	863	c.726G>A	c.(724-726)tcG>tcA	p.S242S	SERPINE2_uc002vnu.2_Silent_p.S230S|SERPINE2_uc002vnv.2_Silent_p.S230S	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	230					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGGCACTTGTCGACCCTAAAG	0.498000													3	54					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	uc001ptr.2	+	6	927	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_uc010ryh.1_Missense_Mutation_p.S191P|PHLDB1_uc001pts.3_Missense_Mutation_p.S192P|PHLDB1_uc001ptt.3_Missense_Mutation_p.S192P|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'UTR|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGAGCTCTATTGAGAA	0.572000													17	49					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53485706	53485706	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	uc002ehi.4	+	4	847	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RBL2_uc010vgv.1_Silent_p.C169C|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Silent_p.C27C	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	243					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378000													25	97					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475283	140475283	+	Silent	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	uc003lil.3	+	0	1047	c.909G>T	c.(907-909)ctG>ctT	p.L303L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398000													25	51					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6302431	6302431	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	uc003giy.3	+	7	1075	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_uc003gix.3_Silent_p.L303L|WFS1_uc003giz.3_Silent_p.L121L	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	303					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582000													23	48					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	uc001hod.3	-	12	2043	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	TP53BP2_uc010pvb.2_Missense_Mutation_p.S540L|TP53BP2_uc010puz.2_Intron|TP53BP2_uc010pva.2_Missense_Mutation_p.S179L	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	534					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478000													4	108					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053851	133053851	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:133053851G>C	uc003ytg.2	-	2	217	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V	OC90_uc011lix.1_Missense_Mutation_p.L89V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	89					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGGCAGAGACCAGCCACA	0.527000													19	45					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313422	1313422	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	uc003mtl.4	+	0	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	161					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652000													3	55					0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130883	75130883	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:75130883G>A	uc011kfy.2	+	5	894	c.758G>A	c.(757-759)cGt>cAt	p.R253H	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	253	Arg-rich.																CAGTTAGGCCGTTCCATGAAC	0.592000													7	252					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	uc004cbk.3	-	9	3386	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_uc004cbj.3_Missense_Mutation_p.E687G|SETX_uc010mzt.3_Missense_Mutation_p.E687G	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1068					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373000													3	115					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515338	44515338	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:44515338C>A	uc002oyb.1	+	4	1398	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	383				QRV -> PEG (in Ref. 1; AAB62180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TAACTTGCACCAGAGGGTCCA	0.438000													4	109					0	0	1	0	0
KIAA0090	23065	broad.mit.edu	37	1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:19557342C>T	uc001bbo.3	-	16	2103	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	KIAA0090_uc001bbp.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.3_Missense_Mutation_p.R665Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	687						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCCTACCTTTCGAAGCCGATA	0.502000													66	175					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48018175	48018175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:48018175C>A	uc003tod.2	-	2	302	c.196G>T	c.(196-198)Gaa>Taa	p.E66*		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	66					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATTTGAAATTCGTTGAAGAAG	0.438000								Direct reversal of damage;Other conserved DNA damage response genes					19	35					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	uc001sah.1	-	5	1232	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	395	Coil 2.|Rod.					keratin filament	structural constituent of epidermis	p.E394Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562000													8	196					0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	102003787	102003787	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:102003787C>G	uc002tba.2	-	0	179	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	45						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGTCCACCTCGTTGGTGACG	0.687000													2	3					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	uc003lvh.3	+	10	1659	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.E350D|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488000													48	150					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411229	33411229	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:33411229G>A	uc011dri.2	+	14	3095	c.2900G>A	c.(2899-2901)cGa>cAa	p.R967Q	SYNGAP1_uc010juy.3_Missense_Mutation_p.R938Q|SYNGAP1_uc010juz.3_Missense_Mutation_p.R679Q	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	967					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R967Q(1)|p.R952Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						caccaccaccGAGGTGGAGAG	0.662000													19	128					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139793321	139793321	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793321G>T	uc004cjv.3	+	1	186	c.129G>T	c.(127-129)agG>agT	p.R43S	TRAF2_uc010nbu.3_Missense_Mutation_p.R43S|TRAF2_uc010nbv.1_Missense_Mutation_p.R43S|TRAF2_uc011mek.2_Missense_Mutation_p.R43S|TRAF2_uc010nbw.3_Missense_Mutation_p.R43S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	43					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	p.R43W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCTCCGCAGGCCCTTCCAGG	0.662000													7	14					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456358	230456358	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:230456358G>T	uc002vpv.3	-	1	670	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	175					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTAGGCAGTGTCACCGTT	0.502000													3	80					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778675	18778675	+	RNA	SNP	C	C	T	rs141850257	by1000genomes	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:18778675C>T	uc011ago.1	-	1		c.145G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		AGACAGAGGCCGACAATGACC	0.627000													3	12					0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95932575	95932575	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:95932575C>T	uc001yei.4	-	2	335	c.320G>A	c.(319-321)cGc>cAc	p.R107H	C14orf49_uc010avi.3_Missense_Mutation_p.R107H|C14orf49_uc001yej.1_Missense_Mutation_p.R107H	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	107					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCACTCGATGCGGCTGTGGGC	0.622000													3	87					0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554545	150554545	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:150554545C>T	uc003why.1	+	2	5205	c.987C>T	c.(985-987)cgC>cgT	p.R329R	ABP1_uc003whz.1_Silent_p.R329R|ABP1_uc003wia.1_Silent_p.R329R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	329					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCCGGCTGCGCTCCTCCTCCG	0.662000													16	36					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138656961	138656961	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:138656961G>A	uc011mdq.2	+	11	1194	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	KCNT1_uc011mdr.2_Missense_Mutation_p.V201M|KCNT1_uc010nbf.3_Missense_Mutation_p.V329M|KCNT1_uc004cgo.1_Missense_Mutation_p.V123M	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	374						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGAAGCACGTGGTCCTGTG	0.612000													4	93					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:74128038T>C	uc001jtb.2	-	11	1529	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.K251R|MICU1_uc010qjw.2_Missense_Mutation_p.K251R|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	449				K -> E (in Ref. 1; BAG60593).	calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										ACCCATGTCTTTGGGCTTTTC	0.493000													13	41					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007898	41007898	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	uc002ony.3	+	7	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_uc002onx.3_Silent_p.S285S|SPTBN4_uc002onz.3_Silent_p.S285S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	285					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537000													4	128					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	uc009wfh.1	+	13	2397	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.E538Q|AMPD2_uc001dyc.1_Missense_Mutation_p.E619Q|AMPD2_uc010ovr.1_Missense_Mutation_p.E544Q|AMPD2_uc001dyd.1_Missense_Mutation_p.E500Q|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	619					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607000													3	62					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	uc002nar.3	-	5	1134	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_uc002nas.3_Missense_Mutation_p.H304Q|BRD4_uc002nat.3_Missense_Mutation_p.H304Q|BRD4_uc002nau.4_Missense_Mutation_p.H304Q	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	304					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97					0	0	1	0	0
SRRD	402055	broad.mit.edu	37	22	26884138	26884138	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	uc010gve.3	+	2	401	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L	SRRD_uc003acp.4_Silent_p.L125L	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	132					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488000													15	51					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	uc003kmq.3	+	14	2914	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.D735V|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.D684V|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	735					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488000													6	82					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	uc002qrc.1	+	5	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642000													20	43					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571169	43571169	+	Silent	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	uc004dfy.3	+	3	538	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	119					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGAATCCCATTGCATATTTGG	0.368000													7	91					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													7	52	---	---	---	---					
MLL3	58508	broad.mit.edu	37	7	152012422	152012424	+	Splice_Site	DEL	CAC	-	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:152012422_152012424delCAC	uc003wla.3	-	4	609	c.390_splice	c.e4-1	p.S130_splice		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	130					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGAGCTGTTCACTAGTAAAAAT	0.350			N		medulloblastoma								8	45	---	---	---	---					
ZRANB1	54764	broad.mit.edu	37	10	126662280	126662281	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:126662280_126662281delAA	uc010qug.2	+	4	1405_1406	c.1301_1302delAA	c.(1300-1302)caafs	p.Q434fs	ZRANB1_uc001lic.3_Frame_Shift_Del_p.Q408fs	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	408	OTU.|TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGAGACGTTCAAAAAGGTAAGC	0.337													19	181	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:58025102_58025103insC	uc001spg.1	-	2	695_696	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													7	177	---	---	---	---					
DDX54	79039	broad.mit.edu	37	12	113601889	113601891	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:113601889_113601891delCCT	uc001tuq.4	-	14	1947_1949	c.1919_1921delAGG	c.(1918-1923)gaggcg>gcg	p.E640del	DDX54_uc001tup.3_In_Frame_Del_p.E640del	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	640	Interaction with nuclear receptors.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ctctctcccgcctcctcctcctc	0.680													2	4	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													2	4	---	---	---	---					
