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	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													4	20					0.00024832	0.000328423	1	1	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	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	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	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	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					1	1	1	1	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	ENST00000399959.2	+	2	905	c.50C>G	c.(49-51)gCt>gGt	p.A17G	DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G|DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	17					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.A17G(2)		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	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	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(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					0.000442599	0.00056708	1	1	0
TSSC2	0	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	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	45					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	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.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	69					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	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	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(1)		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	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				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(9)		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	ENST00000368172.1	+	8	1021	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000359209.6_Missense_Mutation_p.R523S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523	Ig-like C2-type 4.					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					1	1	1	1	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	ENST00000264515.6	-	5	652	c.511G>A	c.(511-513)Gca>Aca	p.A171T	RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	171					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
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	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.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	41					0.004672	0.00563388	1	1	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	ENST00000306534.3	-	4	1150	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	222	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R222Q(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	ENST00000249601.4	-	10	2385	c.2089C>A	c.(2089-2091)Cca>Aca	p.P697T	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	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					6.4e-05	8.74667e-05	1	1	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	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	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	ENST00000289371.5	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	476					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.M476T(1)		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	ENST00000589272.1	-	3	447	c.118C>T	c.(118-120)Cga>Tga	p.R40*	RTBDN_ENST00000458671.2_Nonsense_Mutation_p.R8*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*			Q9BSG5	RTBDN_HUMAN	retbindin	8						extracellular region		p.R40*(1)		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	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.S1087G(1)		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	ENST00000344575.3	+	1	1368	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	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|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.A380V(1)		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
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	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.Q581Q(1)		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	ENST00000188376.5	+	5	1111	c.757C>A	c.(757-759)Cgc>Agc	p.R253S	SLC25A3_ENST00000228318.3_Missense_Mutation_p.R254S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	254					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	p.R254S(3)|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					1	1	1	1	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	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	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	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	980								p.D980G(1)		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	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	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(1)|p.R150R(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	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				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(16)|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	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	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
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	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.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	35					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53993763	53993763	+	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.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398000													11	145					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	ENST00000359345.1	-	2	3343	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding	p.G256D(1)		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	ENST00000564079.1	+	1	263	c.23C>A	c.(22-24)gCt>gAt	p.A8D	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	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(2)		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					0.014758	0.0168077	1	1	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	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(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
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	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	p.W108C(2)		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	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204						nucleus	ATP binding	p.I204I(2)		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					0.00198382	0.00246474	1	1	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	ENST00000542196.1	-	1	869	c.827C>T	c.(826-828)aCc>aTc	p.T276I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T276I(1)		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	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.A517T(1)		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	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	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(1)		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					1	1	1	1	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	ENST00000423517.2	-	13	14358	c.14021G>A	c.(14020-14022)aGc>aAc	p.S4674N	PCLO_ENST00000333891.8_Missense_Mutation_p.S4674N|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4562					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4674N(2)		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	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V419F(1)		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					0.014758	0.0168077	1	1	0
RP5-896L10.1	0	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		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.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													3	4	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	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	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|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	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	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													5	7	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			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.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	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	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(748-753)caagca>caCAGagca	p.250_250Q>HR	MED15_ENST00000292733.7_In_Frame_Ins_p.250_250Q>HR|MED15_ENST00000425759.2_In_Frame_Ins_p.139_139Q>HR|MED15_ENST00000406969.1_In_Frame_Ins_p.224_224Q>HR|MED15_ENST00000382974.2_In_Frame_Ins_p.179_179Q>HR|MED15_ENST00000541476.1_In_Frame_Ins_p.224_224Q>HR|MED15_ENST00000542773.1_In_Frame_Ins_p.55_55Q>HR|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	250	Poly-Gln.			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	32	---	---	---	---