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
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:8609872C>A	uc002knp.3	+	0	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G	RAB12_uc002kno.1_Silent_p.G145G	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(2)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													4	20					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	uc010uln.2	+	4	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_uc002ayg.4_Missense_Mutation_p.L174F|CLK3_uc002ayh.4_5'UTR|CLK3_uc002ayj.4_Intron|CLK3_uc002ayk.4_Missense_Mutation_p.L101F|CLK3_uc002ayl.4_5'Flank	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	322	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567000													5	114					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	uc002lhj.4	-	3	2072	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	620							ATP binding|protein serine/threonine kinase activity	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41196665	41196665	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:41196665C>G	uc004dfe.3	+	1	905	c.50C>G	c.(49-51)gCt>gGt	p.A17G	DDX3X_uc004dfd.1_Non-coding_Transcript|DDX3X_uc010nhf.1_Missense_Mutation_p.A17G|DDX3X_uc011mks.2_Missense_Mutation_p.A17G|DDX3X_uc004dff.3_Missense_Mutation_p.A17G|DDX3X_uc011mkq.2_Missense_Mutation_p.A17G|DDX3X_uc011mkr.2_Missense_Mutation_p.A17G|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	17					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.A17G(3)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGTTTGCTGGCCTAGAC	0.418000										HNSCC(61;0.18)			3	38					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	uc003uhl.3	-	7	1090	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_uc003uhm.3_Missense_Mutation_p.Q304K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	309	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.Q309K(2)|p.G308V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398000													10	130					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													4	45					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	uc004bbn.3	+	11	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	500					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K500N(2)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448000													7	105					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													7	15					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063224	158063224	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:158063224C>A	uc001frn.4	+	11	1971	c.1567C>A	c.(1567-1569)Cgc>Agc	p.R523S	KIRREL_uc010pib.2_Missense_Mutation_p.R423S|KIRREL_uc009wsq.3_Missense_Mutation_p.R359S|KIRREL_uc001fro.4_Missense_Mutation_p.R337S	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	523						integral to membrane		p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602000													3	92					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205072996	205072996	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:205072996C>T	uc010prd.2	-	3	897	c.616G>A	c.(616-618)Gca>Aca	p.A206T	RBBP5_uc010pre.2_Missense_Mutation_p.A44T|RBBP5_uc001hbu.2_Missense_Mutation_p.A171T|RBBP5_uc001hbv.2_Missense_Mutation_p.A171T	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	171				F -> Y (in Ref. 2; BAF82826).	histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGCCTTTTGCGTTTCCCGTA	0.388000													4	153					0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	177054546	177054546	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:177054546T>A	uc011dgc.2	-	1	327	c.199A>T	c.(199-201)Aat>Tat	p.N67Y	C5orf25_uc011dgb.1_Non-coding_Transcript	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	482												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		AGGGGAAAATTCTCTTCAATG	0.413000													5	56					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766108	124766108	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:124766108C>T	uc001qbg.3	-	3	805	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ROBO4_uc010sas.2_Missense_Mutation_p.R77Q|ROBO4_uc001qbh.2_Missense_Mutation_p.R112Q|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	222	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R222Q(2)|p.R222R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGAAACCCGGGCTGCGCG	0.607000													3	73					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654442	49654442	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr10:49654442G>T	uc001jgu.3	-	9	2434	c.2137C>A	c.(2137-2139)Cca>Aca	p.P713T	ARHGAP22_uc001jgs.3_Missense_Mutation_p.P607T|ARHGAP22_uc001jgt.3_Missense_Mutation_p.P697T|ARHGAP22_uc010qgl.2_Missense_Mutation_p.P654T|ARHGAP22_uc010qgm.2_Missense_Mutation_p.P703T|ARHGAP22_uc001jgv.3_Missense_Mutation_p.P395T|ARHGAP22_uc001jgr.3_Missense_Mutation_p.P414T	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	697					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.P697T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTACTTTGGGGCCCTGGCA	0.542000													3	43					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	uc001ckz.3	+	3	890	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.P97R|DPH2_uc001clb.3_Missense_Mutation_p.P156R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	232					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)				GACCTTGACCCAGACCTGAGT	0.622000													4	141					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	uc002tab.3	+	7	1611	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	476					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.M476T(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353000													7	62					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12940772	12940772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:12940772G>A	uc002mvj.3	-	2	436	c.118C>T	c.(118-120)Cga>Tga	p.R40*	RTBDN_uc002mvh.1_Nonsense_Mutation_p.R40*|RTBDN_uc002mvi.3_Nonsense_Mutation_p.R8*|RTBDN_uc021upo.1_Nonsense_Mutation_p.R18*	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	8						extracellular region		p.R40*(2)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCGATGGGTCGCATGTGGACC	0.612000													3	47					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	uc010mwc.1	-	19	3500	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	AL833455_uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_Non-coding_Transcript	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	1087						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.S1087G(2)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363000													7	129					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849476	72849476	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:72849476C>T	uc003tyb.3	+	0	1368	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	380					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity	p.A380V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCAAGGTGGCGGGTGATGAG	0.667000													4	71					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500933	66500933	+	RNA	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:66500933G>C	uc004aed.1	+	2		c.1026G>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CAGCAAGAGCGCCGCGGAGCG	0.607000													2	11					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082756	66082756	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	uc001ohm.1	-	0	1760	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	581	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.Q581Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TAATGGGAAGCTGGGTGGCCT	0.632000													10	177					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98993848	98993848	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:98993848C>A	uc001tfo.3	+	5	880	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	SLC25A3_uc001tfm.3_Missense_Mutation_p.R253S|SLC25A3_uc001tfn.3_Missense_Mutation_p.R253S|SLC25A3_uc001tfp.3_Missense_Mutation_p.R253S|SLC25A3_uc001tfq.3_Missense_Mutation_p.R123S|SLC25A3_uc001tfr.3_Missense_Mutation_p.R254S|SLC25A3_uc001tfs.3_Missense_Mutation_p.R210S	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	p.R254S(5)|p.R253S(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCTAAGCCCCGCAGTGAATG	0.428000													3	63					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	uc004aac.3	-	9	2724	c.2644A>G	c.(2644-2646)Atc>Gtc	p.I882V	FBXO10_uc004aab.3_Missense_Mutation_p.I866V|FBXO10_uc004aad.3_Missense_Mutation_p.I416V	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522000													4	141					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	uc010txj.1	-	0	2998	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	980								p.D980G(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557000													3	101					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52484402	52484402	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	uc002egw.2	-	3	636	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_uc010vgt.1_Silent_p.R150R	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	155					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R155R(2)|p.R150R(1)|p.R155W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562000													5	102					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	18					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	uc003jby.2	+	5	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	262					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572000													3	150					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483497	41483497	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:41483497C>T	uc009vwg.1	-	3	1151	c.767G>A	c.(766-768)gGc>gAc	p.G256D	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_Missense_Mutation_p.G256D|SLFNL1_uc001cgn.2_Missense_Mutation_p.G197D|SLFNL1_uc001cgm.2_Missense_Mutation_p.G256D	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	256							ATP binding	p.G256D(2)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCAGGCTGCCGCCCTCGCT	0.667000													3	50					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43663575	43663575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:43663575C>A	uc001zro.3	+	0	263	c.23C>A	c.(22-24)gCt>gAt	p.A8D	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_5'Flank|ZSCAN29_uc001zrk.1_5'Flank|ZSCAN29_uc010bdf.1_5'Flank|ZSCAN29_uc001zrl.1_5'Flank|ZSCAN29_uc001zrm.3_5'Flank|TUBGCP4_uc001zrn.3_Missense_Mutation_p.A8D	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	8					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.A8D(4)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGCTCTTGGCTCTGAGCGGG	0.652000											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	uc001fmg.3	+	1	931	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(2)|p.T212N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572000													3	76					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40869	40869	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrGL000218.1:40869G>A	uc011mfn.2	-	2	150	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LOC100233156_uc003jah.2_Missense_Mutation_p.R21C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGCGCTGCGGGGCTGGGGA	0.682000													3	4					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153994551	153994551	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	uc004fmm.3	+	4	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C	DKC1_uc010nvf.3_Missense_Mutation_p.W108C|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	108					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity	p.W108C(3)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478000									Congenital Dyskeratosis				5	59					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	uc002hjg.4	-	1	859	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_uc010ctr.3_Silent_p.I204I|SLFN11_uc010ctp.3_Silent_p.I204I|SLFN11_uc010ctq.3_Silent_p.I204I|SLFN11_uc002hjh.4_Silent_p.I204I	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	204						nucleus	ATP binding	p.I204I(4)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413000													7	171					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367082	107367082	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:107367082G>A	uc011lvq.2	-	0	827	c.827C>T	c.(826-828)aCc>aTc	p.T276I		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T276I(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTTTGTCGGTAGCATCCAA	0.408000													8	154					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	uc002gvd.4	+	9	1997	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_uc010cql.1_Missense_Mutation_p.A226T|EPN2_uc002gve.4_Missense_Mutation_p.A460T|EPN2_uc002gvf.4_Missense_Mutation_p.A232T|EPN2_uc010vyo.2_Missense_Mutation_p.A225T|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Missense_Mutation_p.A453T|EPN2_uc010vyq.2_Missense_Mutation_p.A454T|EPN2_uc002gvj.3_Missense_Mutation_p.A180T	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	517	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.A517T(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627000													4	134					0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	uc001pjy.3	+	1	161	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_uc001pjw.1_Missense_Mutation_p.V29L|ACAT1_uc001pjx.3_5'UTR	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	29					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	p.V29L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229000													3	55					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474612	82474612	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:82474612C>T	uc003uhx.2	-	12	14310	c.14021G>A	c.(14020-14022)aGc>aAc	p.S4674N	PCLO_uc003uhv.2_Missense_Mutation_p.S4674N|PCLO_uc003uht.1_Missense_Mutation_p.S125N|PCLO_uc003uhu.1_Missense_Mutation_p.S104N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4562					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4674N(3)		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						CTTCTTTTTGCTCACTGAGGG	0.468000													3	29					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	uc002xwa.4	-	2	1550	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V419F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647000													5	81					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532845	42532845	+	Silent	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:42532845C>A	uc010dni.3	+	3	3836	c.3540C>A	c.(3538-3540)ggC>ggA	p.G1180G		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1180						nucleus	DNA binding	p.G1126G(3)|p.G1180G(3)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCCACAGGCTTCTCCAGCC	0.522000									Schinzel-Giedion syndrome				9	77					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	-	-	rs67907220		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr4:147560458_147560466delGGCGGCGGC	uc003ikv.3	+	0	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	65	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													6	8	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	GGCGGCGGC	GGCGGCGGC	rs3833707	by1000genomes	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.3	+	0	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	58	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													5	7	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	CAG	CAG	rs361923		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr22:20920813_20920814insCAG	uc002zsp.3	+	6	830_831	c.750_751insCAG	c.(748-753)insCAG	p.262_263insQ	MED15_uc002zso.2_In_Frame_Ins_p.191_192insQ|MED15_uc002zsq.3_In_Frame_Ins_p.262_263insQ|MED15_uc010gso.3_In_Frame_Ins_p.262_263insQ|MED15_uc002zsr.3_In_Frame_Ins_p.236_237insQ|MED15_uc011ahs.2_In_Frame_Ins_p.236_237insQ|MED15_uc002zss.3_In_Frame_Ins_p.181_182insQ|MED15_uc011ahu.2_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.589													12	34	---	---	---	---					
