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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COL6A3	1293	broad.mit.edu	37	2	238249144	238249144	+	Silent	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	uc002vwl.2	-	37	8700	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_uc002vwo.2_Silent_p.N2599N|COL6A3_uc010znj.1_Silent_p.N2198N|COL6A3_uc002vwj.2_Silent_p.N186N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2805	Nonhelical region.|VWFA 12.		N -> T (in dbSNP:rs35848091).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGGCTCCTCGTTGAGCTCGG	0.557000														47			34		0	0	0.074837	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555313	44555313	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	uc010xdb.2	-	0	1137	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	301				S -> C (in Ref. 1; BAC01113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632000														776			25		0	0	0.108266	0	0
OR5M1	390168	broad.mit.edu	37	11	56380663	56380663	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	uc001nja.1	-	0	316	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448000														30			20		0	0	0.049695	0	0
LILRB2	10288	broad.mit.edu	37	19	54780127	54780127	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	uc002qfb.3	-	11	1854	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.K504N|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Nonsense_Mutation_p.E529*|LILRB2_uc010yet.2_Nonsense_Mutation_p.E414*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	530					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627000														111			17		6.49762e-13	7.33602e-13	0.175082	1	0
CDC14C	168448	broad.mit.edu	37	7	48965263	48965263	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:48965263T>C	uc010kyv.1	+	0	1107	c.995T>C	c.(994-996)aTg>aCg	p.M332T						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TTTTTGGTGATGAAGCAAACA	0.512000														110			18		0	0	0.160694	0	0
PSG8	440533	broad.mit.edu	37	19	43258728	43258728	+	Missense_Mutation	SNP	G	T	T	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	uc002ouo.2	-	4	1098	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.L334I|PSG8_uc010ein.3_Missense_Mutation_p.L212I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	334						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTGGGGAGGTCTGGACCA	0.502000														82			5		1.23904e-05	1.31413e-05	0.014758	1	0
GNAS	2778	broad.mit.edu	37	20	57428501	57428501	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	uc002xzw.3	+	0	466	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				14			10		0	0	0.080935	0	0
CSN3	1448	broad.mit.edu	37	4	71114862	71114862	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	uc003hfe.4	+	3	293	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	79						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448000														33			29		0	0	0.108266	0	0
CCDC170	80129	broad.mit.edu	37	6	151914325	151914325	+	Silent	SNP	C	T	T	rs113968720		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr6:151914325C>T	uc003qol.3	+	7	1466	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	459								p.D459E(1)									TGCGGCTGGACGTGGTTTTAG	0.453000														31			23		0	0	0.083992	0	0
DSG3	1830	broad.mit.edu	37	18	29038477	29038477	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	uc002kws.3	+	3	395	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	96	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATCAGCCGCCTTTTGGAAT	0.443000														33			17		3.52763e-06	3.79899e-06	0.160694	1	0
ZNF681	148213	broad.mit.edu	37	19	23926730	23926730	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	uc002nrk.4	-	3	1764	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_uc002nrl.4_Missense_Mutation_p.K472I|ZNF681_uc002nrj.4_Missense_Mutation_p.K472I	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393000														13			13		0	0	0.105934	0	0
ANK3	288	broad.mit.edu	37	10	61835813	61835813	+	Missense_Mutation	SNP	G	A	A	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	uc001jky.3	-	36	5164	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1609	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAAGGGCGTAGCTTCCGT	0.473000														22			52		0	0	0.139131	0	0
BTC	685	broad.mit.edu	37	4	75673309	75673309	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	uc003hig.2	-	4	826	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	160					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	p.E159K(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTACCCAGAGTTTCCATTTC	0.353000														13			7		8.12818e-05	8.49213e-05	0.029380	1	0
KCNH8	131096	broad.mit.edu	37	3	19575087	19575087	+	Silent	SNP	C	T	T	rs151258565	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	uc003cbk.1	+	15	3015	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	KCNH8_uc010hex.1_Silent_p.G401G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542000														44			33		0	0	0.144211	0	0
RRAGA	10670	broad.mit.edu	37	9	19049841	19049841	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	uc003znj.3	+	0	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	62					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|positive regulation of cytolysis|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542000														7			16		1.99824e-07	2.22026e-07	0.160694	1	0
LTBP2	4053	broad.mit.edu	37	14	75022287	75022287	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	uc001xqa.3	-	3	1327	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	314					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652000														109			10		0	0	0.058154	0	0
TNRC18	84629	broad.mit.edu	37	7	5372548	5372548	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	uc003soi.4	-	18	6201	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1951							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCGGGACCGCGGGCGCCAGG	0.751000														21			6		0	0	0.021553	0	0
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	uc004eua.3	+	7	1050	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_uc004etz.4_Nonsense_Mutation_p.R216*|STAG2_uc004eub.3_Nonsense_Mutation_p.R216*|STAG2_uc004euc.3_Nonsense_Mutation_p.R216*|STAG2_uc004eud.3_Nonsense_Mutation_p.R216*|STAG2_uc004eue.3_Nonsense_Mutation_p.R216*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R216Q(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343000														13			44		0	0	0.117977	0	0
SPEF2	79925	broad.mit.edu	37	5	35692734	35692734	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	uc003jjo.3	+	11	1918	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SPEF2_uc003jjq.4_Missense_Mutation_p.D603N|SPEF2_uc003jjp.1_Missense_Mutation_p.D94N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	603					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATTTCATGACAATGAAAA	0.343000														34			27		0	0	0.091800	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261024	23261024	+	Missense_Mutation	SNP	A	T	T	rs146352451	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:23261024A>T	uc001yvh.1	+	8	998	c.456A>T	c.(454-456)caA>caT	p.Q152H	DQ600342_uc001yvi.3_5'Flank|DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						CATTTCAACAACTCCAATTAG	0.502000														32			3		0	0	0.115264	0	0
DLC1	10395	broad.mit.edu	37	8	12957837	12957837	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	uc003wwm.2	-	8	2453	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_uc003wwk.1_Missense_Mutation_p.R233P|DLC1_uc003wwl.1_Missense_Mutation_p.R267P|DLC1_uc011kxx.1_Missense_Mutation_p.R159P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	670					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTCCATCCGTTTCAGCAG	0.562000														88			105		0	0	0.139131	0	0
ESRRB	2103	broad.mit.edu	37	14	76905888	76905888	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	uc001xsr.3	+	3	563	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.G64G	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTTTGCAGGCGCCGGGCTGG	0.677000														53			20		0	0	0.049695	0	0
ZNF560	147741	broad.mit.edu	37	19	9578276	9578276	+	Silent	SNP	T	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	uc002mlp.1	-	9	1557	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G	ZNF560_uc010dwr.1_Silent_p.G343G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G449E(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398000														48			41		0	0	0.092188	0	0
PLD1	5337	broad.mit.edu	37	3	171330202	171330202	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	uc003fhs.3	-	24	3096	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	PLD1_uc003fht.3_Missense_Mutation_p.R879C|PLD1_uc003fhu.4_Missense_Mutation_p.R211C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	917	Catalytic.|PLD phosphodiesterase 2.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493000														49			7		0	0	0.038147	0	0
AGL	178	broad.mit.edu	37	1	100361871	100361871	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	uc001dsi.1	+	24	3689	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_uc001dsj.1_Missense_Mutation_p.R1097C|AGL_uc001dsk.1_Missense_Mutation_p.R1097C|AGL_uc001dsl.1_Missense_Mutation_p.R1097C|AGL_uc001dsm.1_Missense_Mutation_p.R1081C|AGL_uc001dsn.1_Missense_Mutation_p.R1080C	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1097					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373000														44			29		0	0	0.144211	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962140	1962140	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	uc002cnf.3	-	1	387	c.387G>A	c.(385-387)acG>acA	p.T129T	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	129										endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672000														23			17		0	0	0.146539	0	0
NFAT5	10725	broad.mit.edu	37	16	69689703	69689703	+	Splice_Site	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	uc002exm.2	+	5	1478	c.1142_splice	c.e5+1	p.A381_splice	NFAT5_uc002exj.2_Splice_Site_p.A305_splice|NFAT5_uc002exk.2_Splice_Site_p.A305_splice|NFAT5_uc002exl.2_Splice_Site_p.A399_splice|NFAT5_uc002exn.2_Splice_Site_p.A399_splice|NFAT5_uc002exh.2_Splice_Site_p.A175_splice|NFAT5_uc002exi.3_Splice_Site_p.A305_splice	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	381	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGACACTGGCGTAAGTACTTA	0.353000														27			15		0	0	0.146539	0	0
GPR32	2854	broad.mit.edu	37	19	51274118	51274118	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	uc010ycf.2	+	0	261	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	87						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562000														46			26		0	0	0.091800	0	0
KIAA0090	23065	broad.mit.edu	37	1	19563721	19563721	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:19563721C>T	uc001bbo.3	-	11	1267	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	KIAA0090_uc001bbp.3_Silent_p.Q408Q|KIAA0090_uc001bbq.3_Silent_p.Q407Q|KIAA0090_uc001bbr.3_Silent_p.Q386Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	408						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCAAGAACACCTGGATATACA	0.502000														81			44		0	0	0.124865	0	0
TEF	7008	broad.mit.edu	37	22	41791868	41791868	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	uc011apa.2	+	3	917	c.831C>T	c.(829-831)aaC>aaT	p.N277N	TEF_uc003azx.3_Silent_p.N242N|TEF_uc003azy.3_Silent_p.N272N	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	272	Leucine-zipper.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587000														80			56		0	0	0.139131	0	0
CDHR1	92211	broad.mit.edu	37	10	85970774	85970774	+	Silent	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	uc001kcv.3	+	12	1443	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_uc001kcw.3_Silent_p.V446V|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGTTGAAGTGAACACCCCAG	0.552000														112			5		0	0	0.029380	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940541	67940541	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	uc001xjk.3	-	2	510	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V34M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	34						integral to membrane		p.F33F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617000														14			13		0	0	0.093190	0	0
ACE	1636	broad.mit.edu	37	17	61557154	61557154	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	uc002jau.2	+	3	570	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_uc010wpi.2_Missense_Mutation_p.S179L|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	179	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGGCTTCCTCGCGAAGCTAC	0.602000														53			34		0	0	0.183431	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752430	19752430	+	Missense_Mutation	SNP	C	T	T	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	uc009zzj.3	-	2	436	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	111					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G111V(2)|p.G111S(2)|p.I110I(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542000														86			50		0	0	0.139131	0	0
ACOT2	10965	broad.mit.edu	37	14	74036498	74036498	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:74036498C>T	uc001xon.4	+	0	727	c.554C>T	c.(553-555)aCg>aTg	p.T185M	ACOT2_uc010tuc.2_Intron|ACOT2_uc001xom.3_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 2 (ACOT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	185					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.Q184R(1)|p.T185A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGTGCCAGACGCGGCACGAG	0.736000														19			5		0	0	0.029380	0	0
RUSC2	9853	broad.mit.edu	37	9	35560371	35560371	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	uc003zww.3	+	9	3989	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1245V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1245	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682000														35			24		0	0	0.083992	0	0
QDPR	5860	broad.mit.edu	37	4	17513644	17513644	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	uc003gpd.3	-	0	214	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Missense_Mutation_p.R12W	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	12					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACCAGCACCCGGCGCGCCTCG	0.756000														19			19		0	0	0.069288	0	0
COBL	23242	broad.mit.edu	37	7	51097053	51097053	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	uc003tps.3	-	10	2096	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	COBL_uc003tpr.4_Silent_p.A580A|COBL_uc011kcl.2_Silent_p.A580A|COBL_uc003tpp.4_Silent_p.A366A|COBL_uc003tpq.4_Silent_p.A521A|COBL_uc003tpo.4_Silent_p.A122A	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	580										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552000														61			19		0	0	0.175082	0	0
TMEM99	147184	broad.mit.edu	37	17	38991040	38991040	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	uc021txc.1	+	2	571	c.272T>A	c.(271-273)tTg>tAg	p.L91*	TMEM99_uc002hvj.1_Nonsense_Mutation_p.L91*|TMEM99_uc021txd.1_Nonsense_Mutation_p.L91*|TMEM99_uc021txe.1_Nonsense_Mutation_p.L91*	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	91						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458000														90			79		0	0	0.139131	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904093	21904093	+	RNA	SNP	A	G	G	rs76302591		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:21904093A>G	uc002gza.2	+	0		c.32A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cacggggtccacaggaacgtc	0.682000														30			3		0	0	0.150653	0	0
WDR63	126820	broad.mit.edu	37	1	85551533	85551533	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	uc001dkt.3	+	6	751	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_uc009wcl.3_Missense_Mutation_p.R187Q	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373000														7			12		0	0	0.080935	0	0
OR2M7	391196	broad.mit.edu	37	1	248487786	248487786	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	uc010pzk.2	-	0	85	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCAGAAAGAAGAGGAAG	0.502000														126			106		0	0	0.139131	0	0
TECRL	253017	broad.mit.edu	37	4	65180375	65180375	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	uc003hcv.3	-	4	651	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_uc003hcw.3_Missense_Mutation_p.P181Q	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438000														18			7		0.00198382	0.00204217	0.029380	1	0
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	T	T	rs145221004		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	uc004bcb.1	-	0	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438000														68			39		0	0	0.069456	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300314	99300314	+	Splice_Site	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	uc003htw.4	+	5	701	c.511_splice	c.e5+1	p.D171_splice	RAP1GDS1_uc003htx.4_Splice_Site_p.D170_splice|RAP1GDS1_uc003htv.4_Splice_Site_p.D171_splice|RAP1GDS1_uc003htz.4_Intron|RAP1GDS1_uc003hty.4_Intron|RAP1GDS1_uc003hua.4_Intron	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	170							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333000			T	NUP98	T-ALL									50			23		0	0	0.069288	0	0
BC019672	0	broad.mit.edu	37	17	20320135	20320135	+	RNA	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:20320135C>T	uc002gwx.3	+	0		c.714C>T								Homo sapiens, clone IMAGE:4938453, mRNA.																		ACAGCAGGGCCATTTGGCCTG	0.577000														5			4		0	0	0.150653	0	0
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	uc003tot.1	+	2	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	236	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507000														181			33		0	0	0.074837	0	0
WISP2	8839	broad.mit.edu	37	20	43344046	43344046	+	Silent	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	uc002xmp.3	+	0	162	c.15G>A	c.(13-15)ccG>ccA	p.P5P	LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Silent_p.P5P|WISP2_uc002xmq.3_Silent_p.P5P	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	5					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612000														7			5		0	0	0.014758	0	0
LILRB2	10288	broad.mit.edu	37	19	54778558	54778558	+	Silent	SNP	G	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	uc002qfb.3	-	13	2042	c.1776C>T	c.(1774-1776)taC>taT	p.Y592Y	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.Y591Y|LILRB2_uc010yet.2_Silent_p.Y476Y	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	592					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617000														67			36		0	0	0.064281	0	0
PPEF2	5470	broad.mit.edu	37	4	76787356	76787356	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	uc003hix.3	-	14	2263	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	636					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGACTCAGTTGTTCCTTGGCC	0.493000														85			65		1.05635e-38	1.23241e-38	0.139131	1	0
QPCT	25797	broad.mit.edu	37	2	37594451	37594451	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	uc002rqg.3	+	3	745	c.623C>G	c.(622-624)tCt>tGt	p.S208C		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	208					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	p.W207*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488000														46			28		0	0	0.108266	0	0
HBD	3045	broad.mit.edu	37	11	5255603	5255603	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	uc001maf.1	-	0	256	c.61G>A	c.(61-63)Gtg>Atg	p.V21M		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	21			V -> E (in Roosevelt; dbSNP:rs34093840).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507000														37			19		0	0	0.069288	0	0
ZNF679	168417	broad.mit.edu	37	7	63726330	63726330	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:63726330C>G	uc003tsx.3	+	4	588	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAAGATTCACTCCAAAAAGT	0.378000														17			8		0	0	0.038147	0	0
PTEN	5728	broad.mit.edu	37	10	89685307	89685307	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	uc001kfb.3	+	2	1234	c.202T>C	c.(202-204)Tac>Cac	p.Y68H	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y68H(16)|p.?(6)|p.R55fs*1(5)|p.Y68N(4)|p.Y68fs*5(4)|p.Y68C(2)|p.Y27fs*1(2)|p.I67_Y68insY(2)|p.Y27_N212>Y(2)|p.R55_L70>S(2)|p.I67K(1)|p.I67T(1)|p.Y68*(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACAAGATATACAATCTGTA	0.274000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				2			2		0	0	0.115264	0	0
DOCK8	81704	broad.mit.edu	37	9	463659	463659	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	uc003zgf.2	+	46	6323	c.6211C>A	c.(6211-6213)Cca>Aca	p.P2071T	DOCK8_uc022bcu.1_Missense_Mutation_p.P2003T|DOCK8_uc010mgv.3_Missense_Mutation_p.P1971T|DOCK8_uc010mgu.3_Missense_Mutation_p.P1373T|DOCK8_uc003zgk.2_Missense_Mutation_p.P1529T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	2071					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTGTACAAGCCAATATTCAG	0.478000														29			4		0.00909568	0.0092275	0.150653	1	0
FAT2	2196	broad.mit.edu	37	5	150948306	150948306	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	uc003lue.4	-	0	200	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	FAT2_uc010jhx.1_Missense_Mutation_p.A63T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	63	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTCCGCGAGGTAGATG	0.493000														105			56		0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														28			3		0	0	0.115264	0	0
CRTC1	23373	broad.mit.edu	37	19	18888133	18888133	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	uc010ebv.3	+	14	1982	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T	CRTC1_uc002nkb.4_Missense_Mutation_p.P616T|CRTC1_uc010ebw.3_Missense_Mutation_p.P452T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	616					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCAACGACCCCGACATGGT	0.682000														288			168		5.35467e-60	6.35299e-60	0.139131	1	0
TCF12	6938	broad.mit.edu	37	15	57554314	57554315	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	uc002aec.3	+	15	1702_1703	c.1418_1419insT	c.(1417-1419)tctfs	p.S473fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S525fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S493fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.S497fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.S497fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.S473fs|TCF12_uc010ugo.2_Frame_Shift_Ins_p.S237fs|TCF12_uc002aee.3_Frame_Shift_Ins_p.S303fs|TCF12_uc010bft.3_Frame_Shift_Ins_p.S327fs|TCF12_uc010ugp.2_Frame_Shift_Ins_p.S131fs|TCF12_uc010ugq.2_Frame_Shift_Ins_p.S107fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S86fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	473					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma								---	10	---	---	6	---					
CREBBP	1387	broad.mit.edu	37	16	3828795	3828795	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	uc002cvv.3	-	8	2051	c.1847delC	c.(1846-1848)cctfs	p.P616fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.P578fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	616	KIX.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						---	87	---	---	46	---					
