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
NADK	65220	broad.mit.edu	37	1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	rs147892956	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000344463.4	-	7	1092	c.871C>T	c.(871-873)Cct>Tct	p.P291S	NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S			O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527													3	31	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602													8	25	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75805314	75805314	+	Splice_Site	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323													42	156	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530543	80530543	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)			40	58	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156431	145156431	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403													46	154	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463													55	154	---	---	---	---
GNAI2	2771	broad.mit.edu	37	3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597													19	32	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTGCTTCTGCAGGCGCAGC	0.413													89	141	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000378814.5	-	14	1435	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403													10	9	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:4824568C>G	ENST00000348624.4	+	7	914	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	274					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GGGCTCCACTCTGTCGGTGAT	0.677													5	13	---	---	---	---
ZNF716	441234	broad.mit.edu	37	7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:57528490A>T	ENST00000420713.1	+	4	435	c.323A>T	c.(322-324)cAa>cTa	p.Q108L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCACTCCAAAAAGTGATA	0.383													8	28	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403													38	159	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000355780.5	-	4	270	c.52A>G	c.(52-54)Aca>Gca	p.T18A	STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000521451.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418													52	174	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612													18	85	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973673	128973673	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													55	67	---	---	---	---
CERS5	91012	broad.mit.edu	37	12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:50536935A>G	ENST00000317551.6	-	3	480	c.356T>C	c.(355-357)gTc>gCc	p.V119A	CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	119					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GATTTTTCGGACATTCCAATC	0.493													83	136	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77853046	77853046	+	Splice_Site	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000407578.2	-	4	861	c.595A>G	c.(595-597)Att>Gtt	p.I199V	MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000544440.2_Splice_Site_p.I161V|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCAATAATCTATTTAAAA	0.358													10	25	---	---	---	---
NOP9	161424	broad.mit.edu	37	14	24769365	24769365	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr14:24769365C>T	ENST00000267425.3	+	1	298	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	NOP9_ENST00000396802.3_Silent_p.L69L	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCGCCGGGCGCTGTCAGCATT	0.617													42	87	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000353139.5	-	49	6566	c.6085A>G	c.(6085-6087)Aca>Gca	p.T2029A	ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463													20	73	---	---	---	---
PRKAR1A	5573	broad.mit.edu	37	17	66519943	66519943	+	Silent	SNP	T	T	C	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				12	21	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74620423	74620423	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTGGTCGCAGCGAACCCCG	0.632													40	39	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439764	43439764	+	RNA	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000446844.3	-	0	311				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423													48	152	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444869	54444869	+	Splice_Site	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552													4	77	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcafs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498													20	83	---	---	---	---
