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
DUSP13	0	broad.mit.edu	37	10	76854454	76854454	+	Missense_Mutation	SNP	G	G	A	rs141915692	by1000genomes	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:76854454G>A	ENST00000491677.2	-	8	1506	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R193W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCGTCTCCCGCCCCAGTCGG	0.647000													14	20					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831865	831865	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:831865G>A	ENST00000233997.2	+	5	765	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	248			Missing (in 50% of the molecules).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCGGGACCGGGGCCAGCCT	0.711000													20	40					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589409	138589409	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr9:138589409G>A	ENST00000298466.5	-	4	470	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AATCTGACTCGACAACGTCAA	0.527000													5	22					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615788	207615788	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:207615788C>T	ENST00000374412.3	-	6	1197	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M|MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATGATCACGTCTTTAATG	0.323000													17	34					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470556	25470556	+	Nonsense_Mutation	SNP	C	C	T	rs140925689		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:25470556C>T	ENST00000264709.3	-	8	1255	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	306	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCCTGGCCACCAGGAGA	0.617000			"""Mis, F, N, S"""		AML								32	36					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85669478	85669478	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:85669478G>A	ENST00000310298.4	+	21	2378	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K|PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	709	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACTATGCTTAGGACTCCAGAG	0.468000													10	51					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109365547	109365547	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:109365547G>A	ENST00000283195.6	+	9	1361	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	412					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGATGTACGAGAACCAGAG	0.373000													38	210					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	2					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs142039862	by1000genomes	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662000													5	11					0.000602214	0.000613577	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73768332	73768332	+	Silent	SNP	C	C	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:73768332C>A	ENST00000223398.6	+	4	1128	c.801C>A	c.(799-801)acC>acA	p.T267T	CLIP2_ENST00000395060.1_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	267	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCACCAGGTATGGTG	0.647000													47	63					3.21987e-24	3.54843e-24	1	1	0
CPNE9	151835	broad.mit.edu	37	3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA.							p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547000													23	54					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236151	81236151	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:81236151A>G	ENST00000599697.1	-	6	1096	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	366					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCCCAAAGACAGCCTGGCA	0.557000													21	30					0	0	1	0	0
PRNT	0	broad.mit.edu	37	20	4713258	4713258	+	Missense_Mutation	SNP	T	T	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr20:4713258T>A	ENST00000326539.2	-	2	1002	c.65A>T	c.(64-66)gAt>gTt	p.D22V	PRNT_ENST00000418528.1_Missense_Mutation_p.D22V|PRNT_ENST00000423718.2_Missense_Mutation_p.D22V																endometrium(2)|lung(5)	7						gatggaggcatccaggtggag	0.463000													7	6					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945197	6945197	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:6945197G>T	ENST00000308009.1	-	4	1554	c.1217C>A	c.(1216-1218)aCc>aAc	p.T406N	SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	406						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAAGAGGCGGTGAAGTCTCC	0.572000													6	13					0.0215528	0.0215528	1	1	0
MSLN	10232	broad.mit.edu	37	16	812765	812765	+	Splice_Site	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:812765G>A	ENST00000566549.1	+	2	502	c.85_splice	c.e2+1	p.G29_splice	MSLN_ENST00000563941.1_Splice_Site_p.G29_splice|MSLN_ENST00000382862.3_Splice_Site_p.G29_splice|MSLN_ENST00000545450.2_Splice_Site_p.G29_splice			Q13421	MSLN_HUMAN	mesothelin	29					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCAGCCTCGGTGCGTACTT	0.682000													36	49					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285340	28285340	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:28285340C>T	ENST00000373894.3	+	8	1550	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L405L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	453				LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328).	sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGTGCACGCTCGTGCTGTGAC	0.652000													5	11					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31379100	31379100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:31379100C>T	ENST00000449934.2	+	3	631	c.577C>T	c.(577-579)Cga>Tga	p.R193*	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	193					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAACTACGGCGATATCTAGA	0.542000													3	7					0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72875555	72875555	+	Silent	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:72875555G>C	ENST00000310226.6	-	5	899	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	301					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTATCAGAGAGCCTGGGGA	0.602000													6	35					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128535	6128535	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:6128535G>A	ENST00000261405.5	-	28	4303	c.4049C>T	c.(4048-4050)gCg>gTg	p.A1350V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1350	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCTGCCCGCATACTTCAC	0.622000													3	42					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42873083	42873083	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:42873083C>T	ENST00000334370.4	+	36	7004	c.6369C>T	c.(6367-6369)aaC>aaT	p.N2123N	MEGF8_ENST00000251268.6_Silent_p.N2190N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2190	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGACTGCAACGAGACGCAGA	0.672000													26	45					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057655	53057655	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:53057655T>C	ENST00000359798.4	+	5	1666	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458000													42	72					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495212	33495212	+	Silent	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:33495212A>T	ENST00000268876.5	+	10	1381	c.1284A>T	c.(1282-1284)gcA>gcT	p.A428A	UNC45B_ENST00000433649.1_Silent_p.A428A|UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGGTGGCACTATGTGGCT	0.597000													23	31					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578513	1578513	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:1578513C>T	ENST00000572621.1	-	19	3258	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512000													27	47					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			10	9					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88950272	88950272	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:88950272C>T	ENST00000298786.4	+	10	2661	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	FAM35A_ENST00000298784.1_Silent_p.V780V			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	780										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGGGATGGTCGTGGCAGACC	0.463000													28	75					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151678361	151678361	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:151678361A>G	ENST00000290583.4	-	11	2000	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	CELF3_ENST00000392706.3_Missense_Mutation_p.F198L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	403	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACGTGGCCAAAGGGGACAAAC	0.493000													3	72					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25967064	25967064	+	Missense_Mutation	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:25967064A>T	ENST00000357085.3	+	3	790	c.314A>T	c.(313-315)gAa>gTa	p.E105V	TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	105					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTGTTCTGCGAAGACGAGGGG	0.562000													18	21					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363000													35	63					0	0	1	0	0
ACTL10	170487	broad.mit.edu	37	20	32255602	32255602	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr20:32255602G>C	ENST00000330271.4	+	1	1299	c.299G>C	c.(298-300)cGc>cCc	p.R100P	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN	actin-like 10	100																	GACCCCGCCCGCCACCATCCG	0.672000													8	11					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440109	135440109	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:135440109G>A	ENST00000443774.1	-	1	187	c.138C>T	c.(136-138)acC>acT	p.T46T	FRG2B_ENST00000425520.1_Silent_p.T46T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	46						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGAAGGCGGTCTTGCCTT	0.507000													22	32					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451395	19451395	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:19451395A>G	ENST00000396229.2	+	3	784	c.35A>G	c.(34-36)gAa>gGa	p.E12G	TMC5_ENST00000542583.2_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G|TMC5_ENST00000381414.4_Missense_Mutation_p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	12						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGTCTGAGGAAGACCCAGAT	0.468000													19	33					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787935	24787935	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522000													31	42					0	0	1	0	0
TUBBP1	0	broad.mit.edu	37	8	30210240	30210240	+	RNA	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:30210240C>T	ENST00000518096.1	+	0	852																											TCACCACCTGCCTCCGCTTCC	0.552000													13	26					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581050	7581050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:7581050G>T	ENST00000379802.3	+	23	4968	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1543	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCGACTATGAAAGGGTTTC	0.507000													33	53					9.45814e-24	1.02148e-23	1	1	0
POTEM	641455	broad.mit.edu	37	14	20019849	20019849	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:20019849G>A	ENST00000551509.1	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	124										endometrium(4)|kidney(1)|lung(4)	9						AAGCGCTGTCGTCGTAGTCTC	0.597000													48	14					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7033055	7033055	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr18:7033055G>A	ENST00000389658.3	-	15	2184	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	697	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTCGATGGCATTAGAGC	0.507000													5	5					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			10	18					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53069171	53069171	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:53069171C>T	ENST00000252244.3	-	9	1799	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	581	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgctgcttccggagccgtag	0.726000													5	7					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084269	107084269	+	Missense_Mutation	SNP	C	C	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chrX:107084269C>G	ENST00000262843.6	+	2	922	c.374C>G	c.(373-375)aCt>aGt	p.T125S	MID2_ENST00000443968.2_Missense_Mutation_p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CGGGAAAGGACTTACAGGCCC	0.537000													15	7					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156131199	156131199	+	Silent	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:156131199G>T	ENST00000368285.3	+	9	1140	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SEMA4A_ENST00000368286.2_Silent_p.L159L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000355014.2_Silent_p.L291L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	291	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGGCCCAGCTGCTCTGCACCC	0.672000													16	26					7.07596e-05	7.34811e-05	1	1	0
HMGCS1	3157	broad.mit.edu	37	5	43298628	43298628	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr5:43298628G>C	ENST00000325110.6	-	3	646	c.440C>G	c.(439-441)tCt>tGt	p.S147C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	147					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCATCCCAAGAGCTGGACTC	0.428000													4	57					0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247132	26247132	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:26247132T>C	ENST00000244537.4	-	1	127	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	25					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGAATATTATCGCTCAGTAC	0.547000													14	29					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51132650	51132650	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:51132650C>T	ENST00000338916.4	-	4	1815	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	SYT3_ENST00000544769.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000593901.1_Silent_p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	394	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTCGTGCCGCGAGAAGC	0.642000													3	25					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000531206.1_Missense_Mutation_p.A599T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388000													3	28					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25315644	25315644	+	RNA	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:25315644A>G	ENST00000549804.2	+	0	678				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA																							GTGAGAACTCATACCGTCGTT	0.478000													79	124					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													3	22					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:56270245C>T	ENST00000327381.5	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	272						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383000													5	44					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863226	99863226	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:99863226C>T	ENST00000409679.1	-	3	245	c.101G>A	c.(100-102)cGc>cAc	p.R34H	LYG2_ENST00000333017.2_Missense_Mutation_p.R34H|LYG2_ENST00000409238.1_Missense_Mutation_p.R34H			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTGGTACAGGCGTGGATGTAG	0.512000													17	50					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527680	65527680	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488000													19	28					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035700	37035700	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:37035700G>A	ENST00000379242.3	+	15	1777	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	VIT_ENST00000401530.1_Missense_Mutation_p.R456Q|VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000389975.3_Missense_Mutation_p.R477Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	477						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTGGTGAAGCGGGTCTGCGAC	0.612000													17	23					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102992417	102992417	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:102992417G>T	ENST00000409599.1	+	6	875	c.519G>T	c.(517-519)aaG>aaT	p.K173N	IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313000													15	39					1.15088e-07	1.21858e-07	1	1	0
TNIK	23043	broad.mit.edu	37	3	170928956	170928956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:170928956delG	ENST00000436636.2	-	4	599	c.255delC	c.(253-255)tafs	p.Y86fs	TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	86	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAGCACCATAGTATGTAGCAA	0.338													17	30	---	---	---	---					
ZNF876P	0	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs36228091		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1																						CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718													5	3	---	---	---	---					
CCT6A	908	broad.mit.edu	37	7	56127963	56127967	+	Splice_Site	DEL	GAGAA	GAGAA	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:56127963_56127967delGAGAA	ENST00000275603.4	+	10	1286_1290	c.1065_splice	c.e10-1	p.GE356_splice	CCT6A_ENST00000540286.1_Splice_Site_p.GE325_splice|CCT6A_ENST00000335503.3_Splice_Site_p.GE311_splice	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	356					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACACATAGGGAGAAGAGAAGTTTA	0.361													11	37	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													3	4	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													3	5	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													3	3	---	---	---	---