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
ITSN1	6453	broad.mit.edu	37	21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	933	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTTAAATTTTAACAAA	0.453000													6	59					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464700	104464700	+	Silent	SNP	G	G	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:104464700G>T	ENST00000372578.3	-	2	493	c.382C>A	c.(382-384)Cgg>Agg	p.R128R	TEX13A_ENST00000372575.1_Silent_p.R128R|TEX13A_ENST00000413579.1_Silent_p.R128R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	128						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATTCTTAGCCGGGAGGCCGCC	0.592000													3	22					0.004672	0.004672	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9784114	9784114	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:9784114G>A	ENST00000536656.1	+	21	2962	c.2754G>A	c.(2752-2754)cgG>cgA	p.R918R	PIK3CD_ENST00000361110.2_Silent_p.R918R|PIK3CD_ENST00000377346.4_Silent_p.R894R			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	894	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGCGATCGGCACAGCGACA	0.632000													4	77					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999231	30999231	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:30999231C>T	ENST00000297679.5	+	7	930	c.837C>T	c.(835-837)tgC>tgT	p.C279C	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	279					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGGCCCCTGCGGACTGCGGC	0.642000													4	123					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182756832	182756832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:182756832G>T	ENST00000492597.1	-	11	1734	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Y453*			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	453	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GACGAAGGCTGTACCTCAGTT	0.527000													18	19					2.35188e-11	2.54003e-11	1	1	0
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:31318075C>T	ENST00000514738.1	+	11	2191	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522000													20	21					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr10:127677139G>C	ENST00000368695.1	+	3	315	c.193G>C	c.(193-195)Gtt>Ctt	p.V65L	FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	71	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AACGAAGCATGTTGTTGAAGG	0.512000													6	113					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	rs77118429	by1000genomes	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:100447586G>C	ENST00000240851.4	+	4	639	c.299G>C	c.(298-300)aGt>aCt	p.S100T	TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_Missense_Mutation_p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	100					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTGAATCAAGTCAGGTGAAA	0.368000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								45	40					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12955541	12955541	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr18:12955541G>A	ENST00000262124.11	+	3	369	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	81					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCTTTTGACCGAACAGCTGCT	0.453000													3	50					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990606	39990606	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr20:39990606C>T	ENST00000332312.3	-	4	1795	c.1603G>A	c.(1603-1605)Gca>Aca	p.A535T		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	535						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTCACCTCTGCCACGAGGCTG	0.642000													7	61					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307601	54307601	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:54307601G>A	ENST00000545554.1	+	1	2501	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	834					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R834Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGATTTCGGACATTATCT	0.438000													13	13					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1249	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTCTTTCTAGGATTTCTCA	0.348000													30	46					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|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													6	28					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:15185290G>C	ENST00000355694.2	-	16	1638	c.1404C>G	c.(1402-1404)atC>atG	p.I468M	TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000512701.1_Missense_Mutation_p.I534M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	468							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGGCAGGTAAGATGAGCTTCA	0.438000													5	82					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32903729	32903729	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr12:32903729G>A	ENST00000324868.8	-	3	1054	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	343					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGAGGACCCCGCCTTTCTGGC	0.433000													20	21					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526039	84526039	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:84526039C>T	ENST00000360700.4	+	10	2515	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000373165.3_Silent_p.A497A|ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000276123.3_Silent_p.A497A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	497					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTTGTTGGCCGTTCACAGCA	0.408000													3	36					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182329	120182329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:120182329G>A	ENST00000328078.1	+	1	868	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	264					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAAGGGGGAATCCATGGA	0.478000													32	4					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr13:31531142A>T	ENST00000380473.3	+	4	458	c.445A>T	c.(445-447)Aga>Tga	p.R149*	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	149																	CCTTACTAAGAGAGACTTTGT	0.438000													24	72					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:48347461G>A	ENST00000319856.4	+	1	990	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAAATGCCATGAGAAAGCTCT	0.328000													14	24					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279929	47279929	+	Missense_Mutation	SNP	G	G	A	rs45578838		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:47279929G>A	ENST00000271153.4	+	7	857	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	274			R -> Q (in dbSNP:rs45578838).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGAAGGTGCGGAAGAAGATC	0.572000													9	14					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39893142	39893142	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:39893142C>T	ENST00000281961.2	+	1	84	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CGTCACGGCGCTCAGCCTCGG	0.731000													7	7					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7559196	7559196	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7559196C>T	ENST00000250111.4	+	7	1263	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	286					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.R286C(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCAAACTCCGCATCAACAA	0.602000													6	2					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64690055	64690055	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:64690055G>A	ENST00000357395.3	+	113	20569	c.9425G>A	c.(9424-9426)cGg>cAg	p.R3142Q	SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6757Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6757					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R6780L(1)|p.R6780Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAGTTACGGGAGCAAGTG	0.428000													26	34					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:151877201A>C	ENST00000355193.2	-	37	7378	c.7160T>G	c.(7159-7161)tTa>tGa	p.L2387*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*					lysine (K)-specific methyltransferase 2C																		GATTTCACGTAACTTCTGCCG	0.443000													55	69					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960758	36960758	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr22:36960758C>T	ENST00000300105.6	-	4	1593	c.612G>A	c.(610-612)cgG>cgA	p.R204R		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTGTTTGTGCCGGTCGATAA	0.637000													4	165					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903633	119903633	+	Silent	SNP	C	C	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:119903633C>G	ENST00000313400.4	-	4	1240	c.1140G>C	c.(1138-1140)ggG>ggC	p.G380G	ASTN2_ENST00000373996.3_Silent_p.G380G|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	380						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTTCCTCTTCCCTGCCGATG	0.577000													19	17					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134361	119134361	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:119134361C>T	ENST00000264245.4	+	12	4117	c.3585C>T	c.(3583-3585)tgC>tgT	p.C1195C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1195					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAAAATGTGCCAGGCCAGGG	0.587000													3	35					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:53081526C>T	ENST00000305901.5	-	1	683	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	186					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGCCCAGACCGGAGCTGGAG	0.667000													27	32					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:208062058C>T	ENST00000356522.4	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	314					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562000													85	104					0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229431652	229431652	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:229431652C>T	ENST00000366690.4	+	4	493	c.285C>T	c.(283-285)atC>atT	p.I95I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	90							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TCTATGATATCACCAGGTAAT	0.562000													16	25					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77948909	77948909	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:77948909G>A	ENST00000393684.3	-	5	856	c.465C>T	c.(463-465)ccC>ccT	p.P155P	ISM2_ENST00000493585.1_Intron|ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P			Q6H9L7	ISM2_HUMAN	isthmin 2	243						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGAGGGCGGGCAGCCAGC	0.607000													27	37					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115238	66115238	+	Silent	SNP	T	T	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:66115238T>G	ENST00000503581.1	-	6	1422	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	295					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACAAGGTTTTGCTGACACCT	0.363000													56	65					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44611159	44611159	+	Silent	SNP	T	T	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	274	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGAACAGGCGTAGCCGGTAAC	0.512000													17	35					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	71					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484655	43484655	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:43484655G>A	ENST00000395891.1	+	11	2489	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	HECW1_ENST00000453890.1_Silent_p.A628A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	628					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCACGGCGCACCCTGGCC	0.711000													8	6					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	49					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:173721044C>A	ENST00000209884.4	+	4	875	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	247	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCAGGAAAGACGTCCTCAATT	0.443000													13	26					0.00316338	0.00322307	1	1	0
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672000													24	33					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652000													35	35					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:9500066G>A	ENST00000396602.2	+	6	622	c.503G>A	c.(502-504)gGt>gAt	p.G168D	ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGTGGCAGGTCTGCACACT	0.493000													35	41					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305294	27305294	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:27305294C>T	ENST00000380320.4	+	4	1354	c.855C>T	c.(853-855)ggC>ggT	p.G285G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	285					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccccTCCGGGCCCCAGTGAGG	0.706000													3	3					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526789	78526789	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:78526789G>A	ENST00000258873.4	-	1	260	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	19					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCTGTCCAGCATGCTGGGG	0.562000													76	105					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:26902661C>A	ENST00000231021.4	-	7	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATCTTCATCTACTTCTATC	0.378000													5	70					0.00116845	0.00121339	1	1	0
TRAF3IP2	10758	broad.mit.edu	37	6	111888871	111888871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:111888871G>A	ENST00000368761.5	-	6	1793	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.R448*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27*	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	448	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCAATGCCTCGGATTCTATCC	0.388000													26	25					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68692994	68692994	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr4:68692994C>T	ENST00000283916.6	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	313	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.A313T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTCTTGAGCGCCCCATCCT	0.378000													36	64					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	43					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607543	46607543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:46607543delG	ENST00000263734.3	+	12	2242	c.1732delG	c.(1732-1734)ccfs	p.A578fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	578					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCCCTGTAGCCCCGCACAG	0.607													18	23	---	---	---	---					
BZW1	9689	broad.mit.edu	37	2	201684815	201684815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:201684815delC	ENST00000409600.1	+	10	1532	c.1077delC	c.(1075-1077)ttfs	p.F359fs	BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	359	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGAAAGCCTTCCAGAAAATAG	0.318													2	4	---	---	---	---					
FAM111A	63901	broad.mit.edu	37	11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)aaafs	p.K478fs	FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406													24	50	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7578555_7578556delCT	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	5	---	---	---	---					
