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
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:53116804G>A	uc002pzu.4	-	1	2258	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_uc002pzv.4_Silent_p.I338I|ZNF83_uc010eps.3_Silent_p.I310I|ZNF83_uc010ept.3_Silent_p.I338I|ZNF83_uc010epu.3_Silent_p.I338I|ZNF83_uc010epw.3_Silent_p.I338I|ZNF83_uc010epv.3_Silent_p.I338I|ZNF83_uc010epx.3_Silent_p.I310I|ZNF83_uc010epy.3_Silent_p.I338I|ZNF83_uc010epz.3_Silent_p.I310I|ZNF83_uc010eqb.2_Silent_p.I310I|ZNF83_uc021uyx.1_Silent_p.I338I	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(2)|p.R337K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													8	158					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	uc003gzl.3	+	7	1368	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S332T|SPATA18_uc003gzk.1_Missense_Mutation_p.S364T	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	364					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378000													6	111					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	881	881	+	RNA	SNP	A	A	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrGL000237.1:881A>G	uc011mgu.1	-	1		c.337T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cgtggctgccacaaccgcaga	0.582000													5	8					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847399	12847399	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:12847399G>A	uc002gnr.4	+	9	1074	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_uc010vvk.2_Silent_p.E249E|ARHGAP44_uc010vvl.2_Silent_p.E249E|ARHGAP44_uc002gns.4_Silent_p.E49E|ARHGAP44_uc010vvm.2_Silent_p.E249E|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	249	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTGGGTAGAGAAGCCTTCCT	0.572000													3	13					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884617	24884617	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:24884617G>A	uc001wpf.4	+	8	3980	c.3662G>A	c.(3661-3663)cGc>cAc	p.R1221H		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1221					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CATTTTTCCCGCTGCATTGGA	0.632000													4	46					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	uc003bxv.1	-	2	490	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	136					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602000													19	41					0	0	1	0	0
POMP	51371	broad.mit.edu	37	13	29242675	29242675	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr13:29242675G>A	uc001usf.3	+	3	409	c.228G>A	c.(226-228)ccG>ccA	p.P76P		NM_015932	NP_057016	Q9Y244	POMP_HUMAN	Homo sapiens proteasome maturation protein (POMP), mRNA.	76					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TATTTGCTCCGCTAAAATTAC	0.368000													17	59					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr6:168430272T>A	uc003qwk.1	+	1	269	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_uc010kkt.1_Non-coding_Transcript|KIF25_uc003qwl.1_Missense_Mutation_p.W3R	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(2)|p.W3C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000													5	102					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988581	134988581	+	Missense_Mutation	SNP	A	A	C	rs145404090	byFrequency	TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:134988581A>C	uc004ezh.3	+	6	774	c.607A>C	c.(607-609)Act>Cct	p.T203P	SAGE1_uc010nry.1_Missense_Mutation_p.T172P|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	203										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCTACAGTCACTCACAATGT	0.443000													43	101					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	uc003gwt.3	+	0	210	c.209G>A	c.(208-210)gGt>gAt	p.G70D		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	70					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463000													4	154					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:39280087G>A	uc002hwa.3	-	0	333	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													5	168					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	uc004bbb.3	+	7	1352	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	LPPR1_uc011lvi.2_Missense_Mutation_p.S294Y|LPPR1_uc004bbc.3_Missense_Mutation_p.S318Y|LPPR1_uc010mtc.3_Missense_Mutation_p.S302Y	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	318						integral to membrane	catalytic activity										CAGAATCACTCTGCGTCCATG	0.418000													4	47					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177058695	177058695	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:177058695G>A	uc003iuj.3	+	9	1667	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	WDR17_uc003ium.4_Missense_Mutation_p.G431E|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	455								p.G454G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTGCTGGGGGAACTTCCCGA	0.289000													14	45					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	uc002wjk.3	-	0	449	c.242T>A	c.(241-243)cTc>cAc	p.L81H	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652000													21	44					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90193209	90193209	+	RNA	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr2:90193209C>T	uc010yts.2	+	34		c.4066C>T								Parts of antibodies, mostly variable regions.																		CATCACTTGCCGGGCAAGTCA	0.517000													19	98					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112702569	112702569	+	Nonsense_Mutation	SNP	C	C	A	rs143570667		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr2:112702569C>A	uc002thk.1	+	2	637	c.515C>A	c.(514-516)tCg>tAg	p.S172*	MERTK_uc002thl.1_5'UTR	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	172	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GACAATGGGTCGTATATCTGT	0.408000													15	51					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809137	15809137	+	Splice_Site	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	uc004cxg.4	+	2	166	c.121_splice	c.e2+1	p.G41_splice		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	41					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458000			"""F, S, Mis"""		"""MDS, CLL"""								6	13					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675933	183675933	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:183675933C>T	uc003ivd.1	+	20	4488	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	ODZ3_uc003ive.1_Silent_p.L884L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1471					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGCCAAACTCAGTGCCCCAT	0.498000													14	46					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	uc003vwr.1	+	0	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	103					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517000													11	28					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:152128617T>C	uc001ezs.1	-	2	1023	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507000													8	757					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	uc001aws.3	+	11	1764	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_uc001awr.1_Missense_Mutation_p.F548L|DNAJC16_uc001awt.3_Missense_Mutation_p.F236L|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	548					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443000													74	258					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	uc003hom.3	-	3	1452	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	425	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353000								Other identified genes with known or suspected DNA repair function					12	48					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:53855364C>T	uc010ydv.1	+	3	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_uc010ydw.1_Missense_Mutation_p.T479I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000													6	96					0	0	1	0	0
INO80B	83444	broad.mit.edu	37	2	74682484	74682484	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr2:74682484C>A	uc010yrs.2	+	0	265	c.64C>A	c.(64-66)Ccc>Acc	p.P22T	INO80B_uc002slg.3_Intron|INO80B_uc010yrr.2_Intron|INO80B_uc002sli.2_Intron	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G21G(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TTCAGGGCTTCCCCTGCCACC	0.597000													18	66					0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615908	140615908	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr5:140615908C>T	uc003ljc.1	+	0	1971	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.									p.D540D(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGGTGGACGGCGACTCGGGCC	0.716000													4	111					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	uc001wag.3	+	12	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_uc001wah.3_Nonsense_Mutation_p.E218*|RPGRIP1_uc001wai.3_Nonsense_Mutation_p.E218*|RPGRIP1_uc001waj.1_Nonsense_Mutation_p.E52*|RPGRIP1_uc001wak.3_Nonsense_Mutation_p.E51*|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'UTR|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	576					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443000													5	26					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:21730847G>T	uc002gyy.3	+	1	274	c.149G>T	c.(148-150)cGg>cTg	p.R50L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	202	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCAAGCAGCGGGAAGATGGC	0.522000													3	30					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298196	184298196	+	Missense_Mutation	SNP	G	G	A	rs34170386		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:184298196G>A	uc003foz.3	+	11	2616	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	727	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCAGCTCAACGATGGGCAGTT	0.607000													15	114					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765900	153765900	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr5:153765900C>T	uc003lvh.3	+	6	1098	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GALNT10_uc003lvg.1_Silent_p.F322F|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.F163F	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	322	Catalytic subdomain B.					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)			GTGGACTGTTCGCCGTGGATC	0.572000													41	130					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	uc003heh.3	-	5	1408	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	467					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438000													27	99					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255151	155255151	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	uc003wmb.3	+	1	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592000													12	52					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154224082	154224082	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:154224082C>A	uc001fep.4	+	13	1784	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	UBAP2L_uc009wot.3_Missense_Mutation_p.S539R|UBAP2L_uc010pek.2_Missense_Mutation_p.S531R|UBAP2L_uc010pel.2_Missense_Mutation_p.S549R|UBAP2L_uc010pen.2_Missense_Mutation_p.S453R	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	539					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACCACGAGCGCCTCTTCAA	0.493000													3	98					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394284	17394284	+	Silent	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:17394284T>C	uc010xpn.1	+	4	987	c.873T>C	c.(871-873)acT>acC	p.T291T	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.T237T|ANKLE1_uc010eao.1_Silent_p.T259T|ANKLE1_uc002nfy.2_Silent_p.T226T|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	237						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCTCGGACACTCCCCCCTGGG	0.632000													3	64					0	0	1	0	0
VASP	7408	broad.mit.edu	37	19	46020999	46020999	+	Silent	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:46020999G>T	uc002pcg.3	+	1	426	c.84G>T	c.(82-84)acG>acT	p.T28T	VASP_uc002pci.3_Silent_p.T15T	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	28	WH1.				T cell receptor signaling pathway|axon guidance|cell junction assembly	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	SH3 domain binding|actin binding|profilin binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CTGCTGGCACGGGTCCCCAGG	0.627000													3	72					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	uc001ljk.2	-	1	526	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_uc010qul.1_Missense_Mutation_p.R38T|ADAM12_uc001ljm.3_Missense_Mutation_p.R38T|ADAM12_uc001ljn.3_Missense_Mutation_p.R38T|ADAM12_uc001ljl.4_Missense_Mutation_p.R38T	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	38					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G37R(1)|p.R38R(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458000													20	89					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	uc003ctz.2	-	29	3821	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607000													53	123					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:23728528C>T	uc002wtp.3	-	2	422	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(2)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													3	41					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418694	8418694	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:8418694C>T	uc001ape.3	-	20	4711	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	RERE_uc001apf.3_Missense_Mutation_p.E1301K|RERE_uc001apd.3_Missense_Mutation_p.E747K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1301	Arg/Glu-rich (mixed charge).				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCCCGCTCGCGGATGGTG	0.667000													3	29					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	uc001rsy.3	-	4	399	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PRKAG1_uc010smd.2_Missense_Mutation_p.Y66C|PRKAG1_uc001rsz.3_Missense_Mutation_p.Y107C|PRKAG1_uc010sme.2_Missense_Mutation_p.Y98C	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	98	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TGATTTATAGTAGCGGTGCAG	0.478000													26	80					0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	uc003dad.1	-	2	568	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	RASSF1_uc003daa.1_5'UTR|RASSF1_uc003dab.1_Missense_Mutation_p.Y72C|RASSF1_uc003dac.2_5'UTR|RASSF1_uc003dae.1_Missense_Mutation_p.Y142C|RASSF1_uc003daf.1_5'UTR|RASSF1_uc010hlk.1_Intron	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	146					Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557000													3	103					0	0	1	0	0
EIF2B3	8891	broad.mit.edu	37	1	45407181	45407182	+	Frame_Shift_Ins	INS	-	T	T	rs148977100		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:45407181_45407182insT	uc001cmt.2	-	3	656_657	c.450_451insA	c.(448-453)aaagcafs	p.K150fs	EIF2B3_uc001cmu.2_Frame_Shift_Ins_p.K150fs|EIF2B3_uc001cmw.3_Frame_Shift_Ins_p.K150fs	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	150					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTTACCTGCTTTTTTTTTCC	0.356													7	111	---	---	---	---					
LOC728554	728554	broad.mit.edu	37	5	177309736	177309736	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr5:177309736delT	uc010jkr.3	+	4	1208	c.290delT	c.(289-291)attfs	p.I97fs						Homo sapiens THO complex 3 pseudogene (LOC728554), non-coding RNA.																		TTTATTGACATTGCTGAAGTG	0.453													5	6	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6578614	6578616	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:6578614_6578616delGAG	uc001mdw.4	+	24	8653_8655	c.8089_8091delGAG	c.(8089-8091)gagdel	p.E2703del	DNHD1_uc001mdu.2_In_Frame_Del_p.E225del|DNHD1_uc001mdx.1_5'Flank|DNHD1_uc001mdy.1_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	2703	Glu-rich.				microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGGAGAGTgaggaggaggagg	0.576													2	4	---	---	---	---					
MLL2	8085	broad.mit.edu	37	12	49437439	49437440	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49437439_49437440insA	uc001rta.4	-	22	5445_5446	c.5445_5446insT	c.(5443-5448)aaggaafs	p.K1815fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1815					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGGGAGTTCCTTCCTTTCTG	0.525			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	45	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349914	89349916	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	uc002fmx.1	-	8	3495_3497	c.3034_3036delAAG	c.(3034-3036)aagdel	p.K1012del	ANKRD11_uc002fmy.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnc.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnb.1_In_Frame_Del_p.K969del	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1012	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512													27	94	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50102809	50102809	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:50102809delG	uc002poo.4	+	4	3959	c.3959delG	c.(3958-3960)cgafs	p.R1320fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	499							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCAGCCCGAGGCCTGCAG	0.692													2	4	---	---	---	---					
