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
PCDHA1	56147	broad.mit.edu	37	5	140167773	140167773	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:140167773C>T	ENST00000504120.2	+	1	1898	c.1898C>T	c.(1897-1899)aCg>aTg	p.T633M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T633M	NM_018900.2	NP_061723.1												p.T633M(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCAGCACGACTCGTGTC	0.657000													49	42					0	0	0.139131	0	0
VPS52	6293	broad.mit.edu	37	6	33239329	33239329	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:33239329G>A	ENST00000482399.1	-	1	324	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Intron|VPS52_ENST00000445902.2_Intron			Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	0					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGGAGCACCGGAACTACGGAG	0.602000													6	8					0	0	0.029380	0	0
MIA2	117153	broad.mit.edu	37	14	39717345	39717345	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:39717345G>C	ENST00000556784.1	+	4	1564	c.1564G>C	c.(1564-1566)Ggt>Cgt	p.G522R	RP11-407N17.3_ENST00000553728.1_Splice_Site_p.E523_splice|MIA2_ENST00000280082.3_Splice_Site_p.D523_splice			Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	523						extracellular region		p.D523H(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CAGTCTGTCAGGTTGGTATGa	0.249000													19	53					0	0	0.043863	0	0
ADRB2	154	broad.mit.edu	37	5	148207101	148207101	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:148207101C>A	ENST00000305988.4	+	1	946	c.707C>A	c.(706-708)tCt>tAt	p.S236Y		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	236					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.S236Y(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATTGACAAATCTGAGGGCCGC	0.552000													60	45					1.73933e-33	2.05458e-33	0.139131	1	0
NEUROD4	58158	broad.mit.edu	37	12	55420633	55420633	+	Nonsense_Mutation	SNP	G	G	A	rs138082041		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:55420633G>A	ENST00000242994.3	+	2	788	c.410G>A	c.(409-411)tGg>tAg	p.W137*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	137	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.W137*(1)|p.W137L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AACTATATTTGGGCTTTATCT	0.493000													36	74					0	0	0.069456	0	0
BAGE2	85319	broad.mit.edu	37	21	11047544	11047544	+	RNA	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr21:11047544C>A	ENST00000470054.1	-	0	710									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTATGATACCCTTTGTCAC	0.333000													36	415					8.16904e-11	8.97645e-11	0.098360	1	0
ACSL3	2181	broad.mit.edu	37	2	223786028	223786028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:223786028C>G	ENST00000357430.3	+	8	1367	c.836C>G	c.(835-837)tCa>tGa	p.S279*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.S279*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	279					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.S279*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCATTGCCCTCAGATATTGCA	0.388000			T	ETV1	prostate								73	111					0	0	0.139131	0	0
RFFL	117584	broad.mit.edu	37	17	33343556	33343556	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:33343556G>C	ENST00000315249.7	-	5	941	c.719C>G	c.(718-720)tCt>tGt	p.S240C	RFFL_ENST00000268850.7_Missense_Mutation_p.S212C|RFFL_ENST00000447669.2_Missense_Mutation_p.S240C|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.S157C|RFFL_ENST00000584655.1_Missense_Mutation_p.S212C|RFFL_ENST00000415395.2_Missense_Mutation_p.S240C|RFFL_ENST00000378516.2_Missense_Mutation_p.S240C|RFFL_ENST00000413582.2_Missense_Mutation_p.S240C|RFFL_ENST00000394597.2_Missense_Mutation_p.S240C			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	240					apoptosis	membrane	ligase activity|zinc ion binding	p.S240C(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTCAGACAGAGAGGCCCTTCG	0.522000													43	77					0	0	0.117977	0	0
SULF1	23213	broad.mit.edu	37	8	70533431	70533431	+	Silent	SNP	C	C	G	rs147223148		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:70533431C>G	ENST00000260128.4	+	14	2256	c.1539C>G	c.(1537-1539)gcC>gcG	p.A513A	SULF1_ENST00000402687.4_Silent_p.A513A|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.A513A|SULF1_ENST00000458141.2_Silent_p.A513A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	513					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.A513A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTACCGTGCCAGCAGAAGCC	0.542000													23	32					0	0	0.076483	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908075	164908075	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:164908075C>A	ENST00000475390.1	-	2	987	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D182Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	182						integral to membrane		p.D182Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGAGATTATCATTTAAAATC	0.383000										HNSCC(40;0.11)			32	143					7.11191e-15	8.09729e-15	0.173368	1	0
NFATC4	4776	broad.mit.edu	37	14	24843028	24843028	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:24843028G>A	ENST00000413692.2	+	6	2020	c.1876G>A	c.(1876-1878)Ggg>Agg	p.G626R	NFATC4_ENST00000555590.1_Missense_Mutation_p.G576R|NFATC4_ENST00000556279.1_Missense_Mutation_p.G595R|NFATC4_ENST00000556759.1_Missense_Mutation_p.G98R|NFATC4_ENST00000556169.1_Missense_Mutation_p.G551R|NFATC4_ENST00000554966.1_Missense_Mutation_p.G576R|NFATC4_ENST00000554344.1_Missense_Mutation_p.G493R|NFATC4_ENST00000553879.1_Missense_Mutation_p.G493R|NFATC4_ENST00000554661.1_Missense_Mutation_p.G493R|NFATC4_ENST00000555453.1_Missense_Mutation_p.G551R|NFATC4_ENST00000557451.1_Missense_Mutation_p.G493R|NFATC4_ENST00000424781.2_Missense_Mutation_p.G576R|NFATC4_ENST00000554473.1_Missense_Mutation_p.G98R|NFATC4_ENST00000553469.1_Missense_Mutation_p.G595R|NFATC4_ENST00000554591.1_Missense_Mutation_p.G626R|NFATC4_ENST00000555167.1_Missense_Mutation_p.G98R|NFATC4_ENST00000553708.1_Missense_Mutation_p.G563R|NFATC4_ENST00000422617.3_Missense_Mutation_p.G551R|NFATC4_ENST00000250373.4_Missense_Mutation_p.G563R|NFATC4_ENST00000539237.2_Missense_Mutation_p.G595R|NFATC4_ENST00000554050.1_Missense_Mutation_p.G563R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	563	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G626R(1)|p.G563R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCAGGGCGGCGGGAAGGTCGT	0.582000													38	109					0	0	0.104719	0	0
FBXL7	23194	broad.mit.edu	37	5	15928576	15928576	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:15928576C>A	ENST00000504595.1	+	3	1186	c.705C>A	c.(703-705)tcC>tcA	p.S235S	FBXL7_ENST00000329673.7_Silent_p.S223S|FBXL7_ENST00000510662.1_Silent_p.S188S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	235					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S235S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATGTGGTGTCCCTCTGCCCTA	0.562000													43	88					1.57945e-13	1.77689e-13	0.124865	1	0
PARP15	165631	broad.mit.edu	37	3	122353866	122353866	+	Splice_Site	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:122353866G>A	ENST00000483793.1	+	8	1027		c.e8-1		PARP15_ENST00000465304.1_Splice_Site|PARP15_ENST00000310366.4_Splice_Site|PARP15_ENST00000464300.2_Splice_Site|PARP15_ENST00000493645.1_Splice_Site			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTACCTGCAGATTGAGAGGA	0.363000													28	68					0	0	0.134883	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131784697	131784697	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr9:131784697C>A	ENST00000372564.3	-	2	214	c.69G>T	c.(67-69)acG>acT	p.T23T	SH3GLB2_ENST00000416629.1_Silent_p.T23T|SH3GLB2_ENST00000372554.4_Silent_p.T23T|SH3GLB2_ENST00000372559.1_Silent_p.T23T|SH3GLB2_ENST00000417224.1_Silent_p.T23T	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	23	Membrane-binding amphipathic helix (By similarity).				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	p.T23T(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						ATTTCTCCTCCGTGAACTACG	0.597000													16	16					8.10497e-08	8.75337e-08	0.055883	1	0
CEACAM3	1084	broad.mit.edu	37	19	42314009	42314009	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:42314009C>G	ENST00000357396.3	+	4	790	c.549C>G	c.(547-549)agC>agG	p.S183R	CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	183						integral to membrane		p.S183R(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CTAGAACCAGCATCCAGCGTG	0.577000													23	777					0	0	0.076483	0	0
C7orf33	202865	broad.mit.edu	37	7	148288208	148288208	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr7:148288208C>T	ENST00000307003.2	+	1	552	c.191C>T	c.(190-192)aCg>aTg	p.T64M		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	64								p.T64M(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATATGCCACGGGAAGACAT	0.473000													53	38					0	0	0.139131	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440183	49440183	+	Silent	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:49440183G>C	ENST00000374201.3	-	10	1445	c.1143C>G	c.(1141-1143)acC>acG	p.T381T	FRMPD2_ENST00000407470.4_Silent_p.T350T|FRMPD2_ENST00000305531.3_Silent_p.T357T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	381	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.T381T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCCAAAGTAGGTGAGTTCCT	0.517000													43	74					0	0	0.139131	0	0
FARP1	10160	broad.mit.edu	37	13	99092214	99092214	+	Splice_Site	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr13:99092214G>A	ENST00000376586.2	+	23	2862		c.e23-1		FARP1_ENST00000595437.1_Splice_Site|FARP1_ENST00000319562.6_Splice_Site			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.?(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTGCCCACAGATTGAGGAGA	0.627000													24	541					0	0	0.099896	0	0
OR9K2	441639	broad.mit.edu	37	12	55524128	55524128	+	Silent	SNP	T	T	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:55524128T>G	ENST00000305377.5	+	1	664	c.576T>G	c.(574-576)tcT>tcG	p.S192S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTACTTTATCTTTTTGCGCTT	0.408000													50	67					0	0	0.139131	0	0
GPC6	10082	broad.mit.edu	37	13	95050858	95050858	+	Silent	SNP	C	C	T	rs146868653	byFrequency	TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr13:95050858C>T	ENST00000377047.4	+	8	2043	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	476						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.N476N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AACTAAAAAACGCCTACAATG	0.418000													39	52					0	0	0.098360	0	0
KLHL10	317719	broad.mit.edu	37	17	39998143	39998143	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:39998143A>T	ENST00000293303.4	+	2	416	c.263A>T	c.(262-264)gAc>gTc	p.D88V	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	88	BTB.					cytoplasm		p.D88V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATTTCTCCCGACATGATGAAG	0.458000													38	35					0	0	0.092188	0	0
SELT	51714	broad.mit.edu	37	3	150344870	150344870	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:150344870T>A	ENST00000471696.1	+	5	612	c.537T>A	c.(535-537)aaT>aaA	p.N179K	SELT_ENST00000477889.1_Missense_Mutation_p.N121K|SELT_ENST00000485923.1_Missense_Mutation_p.N121K|SELT_ENST00000480740.1_Missense_Mutation_p.N121K	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		179					cell redox homeostasis|selenocysteine incorporation		selenium binding	p.N179K(1)						LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCTTGACAATGAAATGAAGC	0.403000													47	106					0	0	0.139131	0	0
TRIM51	84767	broad.mit.edu	37	11	55655667	55655667	+	Silent	SNP	A	A	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:55655667A>C	ENST00000449290.2	+	4	759	c.667A>C	c.(667-669)Agg>Cgg	p.R223R	TRIM51_ENST00000244891.3_Silent_p.R80R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	223						intracellular	zinc ion binding	p.R223R(1)|p.R64R(1)									GGAACATTCCAGGGAGCTTTT	0.458000													23	51					0	0	0.153744	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582000													5	155					0	0	0.029380	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419198	105419198	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:105419198C>G	ENST00000333244.5	-	7	2709	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	864						nucleus		p.E864Q(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCGGCCTCCACCTTCGGC	0.612000													61	362					0	0	0.139131	0	0
FCGBP	8857	broad.mit.edu	37	19	40433949	40433949	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:40433949G>A	ENST00000221347.6	-	2	327	c.320C>T	c.(319-321)gCg>gTg	p.A107V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	107	IgGFc-binding.					extracellular region	protein binding	p.A107V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATCACCACCGCATGCTGGAA	0.567000													4	130					0	0	0.150653	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758260	25758260	+	RNA	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:25758260C>T	ENST00000586223.1	+	0	2694					NR_033892.1																						AGCAGCAGTGCGCTTCCACCT	0.562000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	0.038147	0	0
STOX1	219736	broad.mit.edu	37	10	70645178	70645178	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:70645178C>G	ENST00000298596.6	+	3	1709	c.1626C>G	c.(1624-1626)atC>atG	p.I542M	STOX1_ENST00000399169.4_Missense_Mutation_p.I542M|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.I432M|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	542						cytoplasm|nucleolus	DNA binding	p.I542M(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCTCAAGAATCTTTGATGGTA	0.418000													36	52					0	0	0.074837	0	0
SMOC2	64094	broad.mit.edu	37	6	169051407	169051407	+	Silent	SNP	C	C	T	rs140169041		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:169051407C>T	ENST00000354536.5	+	10	1207	c.987C>T	c.(985-987)gaC>gaT	p.D329D	SMOC2_ENST00000356284.2_Silent_p.D318D	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	318					signal transduction	basement membrane	calcium ion binding	p.D329D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCGTTCTGGACGCGCTGTCCA	0.537000													14	19					0	0	0.175082	0	0
P4HA1	5033	broad.mit.edu	37	10	74804763	74804763	+	Missense_Mutation	SNP	G	G	A	rs145054165	by1000genomes	TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:74804763G>A	ENST00000412021.2	-	10	1457	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	P4HA1_ENST00000394890.2_Missense_Mutation_p.T375M|P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000307116.2_Missense_Mutation_p.T375M|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000373008.2_Intron	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	375						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	p.T375M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAATGTACCGTCTCCAAGTC	0.373000													35	65					0	0	0.111260	0	0
ZNF679	168417	broad.mit.edu	37	7	63726886	63726886	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr7:63726886G>T	ENST00000421025.1	+	5	1144	c.875G>T	c.(874-876)gGa>gTa	p.G292V	ZNF679_ENST00000255746.4_Missense_Mutation_p.G292V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G292V(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATTCATACTGGAGAGAAACCA	0.433000													13	24					2.39187e-15	2.73978e-15	0.049695	1	0
RNF103	7844	broad.mit.edu	37	2	86831831	86831831	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:86831831T>G	ENST00000237455.4	-	4	2161	c.1193A>C	c.(1192-1194)aAt>aCt	p.N398T	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	398					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N398T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGTGGTTGTATTGGAATATCT	0.383000													41	48					0	0	0.139131	0	0
HTR2B	3357	broad.mit.edu	37	2	231978590	231978590	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:231978590C>A	ENST00000258400.3	-	3	918	c.406G>T	c.(406-408)Gtt>Ttt	p.V136F	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	p.V136F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GAAAAGAGAACGTCAAGAAAT	0.413000													9	150					1.76689e-08	1.91921e-08	0.058154	1	0
AMOTL2	51421	broad.mit.edu	37	3	134086503	134086503	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:134086503C>A	ENST00000514516.1	-	3	1229	c.1051G>T	c.(1051-1053)Gtg>Ttg	p.V351L	AMOTL2_ENST00000422605.2_Missense_Mutation_p.V293L|AMOTL2_ENST00000513145.1_Missense_Mutation_p.V293L|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V293L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	293								p.V293L(1)		endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCCCTCCACAGCAGGTGGA	0.672000													4	102					2.56e-06	2.73356e-06	0.150653	1	0
MUC17	140453	broad.mit.edu	37	7	100685800	100685800	+	Silent	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr7:100685800C>G	ENST00000306151.4	+	3	11167	c.11103C>G	c.(11101-11103)gtC>gtG	p.V3701V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3701	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V3701V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTATGCCTGTCAGCACCACAC	0.502000													101	84					0	0	0.139131	0	0
LPXN	9404	broad.mit.edu	37	11	58317464	58317464	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:58317464G>A	ENST00000528954.1	-	6	776	c.657C>T	c.(655-657)tgC>tgT	p.C219C	LPXN_ENST00000528489.1_Silent_p.C194C|LPXN_ENST00000395074.2_Silent_p.C214C	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	214	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	p.C219C(1)|p.C214C(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGGAGCAGCGCAGTAAGCAC	0.498000													55	100					0	0	0.139131	0	0
JADE1	79960	broad.mit.edu	37	4	129792666	129792666	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:129792666A>G	ENST00000226319.6	+	11	2058	c.1778A>G	c.(1777-1779)aAg>aGg	p.K593R	PHF17_ENST00000512960.1_Missense_Mutation_p.K593R|PHF17_ENST00000452328.2_Missense_Mutation_p.K581R	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		593					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	p.K593R(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCGCTGAAAAAGCCCCATAAG	0.502000													4	171					0	0	0.150653	0	0
HPS3	84343	broad.mit.edu	37	3	148858854	148858854	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:148858854C>A	ENST00000296051.2	+	3	903	c.763C>A	c.(763-765)Cag>Aag	p.Q255K	HPS3_ENST00000460120.1_Missense_Mutation_p.Q90K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	255						cytoplasm		p.Q255K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTCATCTGCCAGAAGCCCCT	0.353000									Hermansky-Pudlak syndrome				29	124					6.84511e-11	7.56565e-11	0.183431	1	0
TACC3	10460	broad.mit.edu	37	4	1730435	1730435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:1730435G>T	ENST00000313288.4	+	4	1412	c.1306G>T	c.(1306-1308)Gag>Tag	p.E436*		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	436						centrosome		p.E436*(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGAAAGCCCTGAGACCAGGCT	0.602000													58	199					4.83677e-39	5.78576e-39	0.139131	1	0
EDEM1	9695	broad.mit.edu	37	3	5251931	5251931	+	Silent	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:5251931C>G	ENST00000256497.4	+	9	1714	c.1581C>G	c.(1579-1581)gtC>gtG	p.V527V	EDEM1_ENST00000445686.1_Silent_p.V332V	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	527					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.V527V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACACAAAAGTCAAGTCAGTTT	0.358000													145	73					0	0	0.139131	0	0
CCNT2	905	broad.mit.edu	37	2	135710263	135710263	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:135710263G>T	ENST00000264157.5	+	8	786	c.756G>T	c.(754-756)aaG>aaT	p.K252N	CCNT2_ENST00000295238.6_Missense_Mutation_p.K252N|CCNT2_ENST00000537343.1_Missense_Mutation_p.K77N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	252					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	p.K252N(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ATAGGTTGAAGAAGATTCGAA	0.313000													14	47					2.23348e-06	2.39846e-06	0.146539	1	0
TIMM17A	10440	broad.mit.edu	37	1	201926494	201926494	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:201926494C>T	ENST00000367287.4	+	2	148	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	38					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.R38C(1)		kidney(1)|lung(3)|stomach(1)	5						CAAAGGTTTTCGCAATTCTCC	0.453000													9	140					0	0	0.047766	0	0
PCDH17	27253	broad.mit.edu	37	13	58299337	58299337	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr13:58299337G>C	ENST00000377918.3	+	4	3415	c.3389G>C	c.(3388-3390)aGa>aCa	p.R1130T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1130					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1130T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCTGGGCAGAGAGTCTGTG	0.512000													117	234					0	0	0.139131	0	0
DUSP6	1848	broad.mit.edu	37	12	89743225	89743225	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:89743225C>G	ENST00000279488.7	-	3	2183	c.952G>C	c.(952-954)Gac>Cac	p.D318H	DUSP6_ENST00000308385.6_Missense_Mutation_p.D172H|DUSP6_ENST00000547291.1_Missense_Mutation_p.D193H	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	318	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.D318H(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCATAGGCGTCGTTCATCGAC	0.483000													62	115					0	0	0.139131	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186908254	186908254	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:186908254G>T	ENST00000367466.3	+	9	962	c.810G>T	c.(808-810)caG>caT	p.Q270H	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Q210H	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	270	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.Q270H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCACACCACAGAAAGTTAAAA	0.373000													4	139					0.150653	0.154747	0.150653	1	0
SPEN	23013	broad.mit.edu	37	1	16258747	16258747	+	Silent	SNP	G	G	A	rs146430628		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:16258747G>A	ENST00000375759.3	+	11	6216	c.6012G>A	c.(6010-6012)ccG>ccA	p.P2004P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2004					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.P2004P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATGAACCGAAGGTGGATG	0.577000													19	71					0	0	0.069288	0	0
C1orf115	79762	broad.mit.edu	37	1	220870013	220870013	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:220870013C>T	ENST00000294889.5	+	2	927	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	123						integral to membrane		p.F123F(1)		large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGCAAGGCTTCGCTGCAGCCT	0.557000													54	105					0	0	0.139131	0	0
CD163	9332	broad.mit.edu	37	12	7649601	7649601	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:7649601C>T	ENST00000359156.4	-	5	1109	c.907G>A	c.(907-909)Gca>Aca	p.A303T	CD163_ENST00000432237.2_Missense_Mutation_p.A303T|CD163_ENST00000396620.3_Missense_Mutation_p.A303T|CD163_ENST00000541972.1_Missense_Mutation_p.A291T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	303	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.A303T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCTTGCATGCCACAGCAGCA	0.498000													29	42					0	0	0.108266	0	0
ZNF197	10168	broad.mit.edu	37	3	44684351	44684351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:44684351C>T	ENST00000396058.1	+	5	1896	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R577*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	577					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R577*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTTTTCATTCGAAGCAAAAG	0.398000													38	68					0	0	0.074837	0	0
DKK4	27121	broad.mit.edu	37	8	42233236	42233236	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:42233236C>T	ENST00000220812.2	-	2	410	c.224G>A	c.(223-225)cGa>cAa	p.R75Q		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	75	DKK-type Cys-1.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		p.R75Q(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATGGCATCTCGCTGGCACCT	0.552000													35	60					0	0	0.092188	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418953	105418953	+	Silent	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:105418953C>G	ENST00000333244.5	-	7	2954	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	945						nucleus		p.L945L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602000													133	416					0	0	0.139131	0	0
ARX	170302	broad.mit.edu	37	X	25033723	25033723	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chrX:25033723C>A	ENST00000379044.4	-	1	342	c.132G>T	c.(130-132)ctG>ctT	p.L44L		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L44L(1)		kidney(1)|large_intestine(2)|lung(1)	4						GCGCGGCTCCCAGCAACCGCA	0.612000													9	9					2.68362e-12	3.00121e-12	0.093190	1	0
ROPN1L	83853	broad.mit.edu	37	5	10442327	10442327	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:10442327C>T	ENST00000503804.1	+	2	569	c.48C>T	c.(46-48)ccC>ccT	p.P16P	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.P16P			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	16					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	p.P16L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TCCACATTCCCCCGGAGCTGC	0.667000													35	68					0	0	0.069456	0	0
GGN	199720	broad.mit.edu	37	19	38877262	38877262	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:38877262C>T	ENST00000334928.6	-	3	772	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	214	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.G214S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAGCCCTGCCGGCCGTCTGG	0.692000													6	41					0	0	0.047766	0	0
FNDC3A	22862	broad.mit.edu	37	13	49712888	49712888	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr13:49712888G>C	ENST00000492622.2	+	7	1071	c.766G>C	c.(766-768)Gat>Cat	p.D256H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D256H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D200H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	256						Golgi membrane|integral to membrane		p.D256H(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ttaaGAAAAAGATGAAGAAAC	0.254000													6	8					0	0	0.021553	0	0
MST1R	4486	broad.mit.edu	37	3	49940859	49940859	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:49940859C>T	ENST00000296474.3	-	1	211	c.184G>A	c.(184-186)Gag>Aag	p.E62K	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.E62K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	62	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.E62K(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGTCGCCCTCGTAGGTCACC	0.632000													59	45					0	0	0.139131	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236866	53236866	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:53236866T>G	ENST00000294353.6	+	3	516	c.371T>G	c.(370-372)aTt>aGt	p.I124S	ZYG11B_ENST00000545132.1_Missense_Mutation_p.I124S|ZYG11B_ENST00000443756.2_Missense_Mutation_p.I124S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	124							protein binding	p.I124S(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTACAGACATTATCAGTGGG	0.483000													52	59					0	0	0.139131	0	0
TOP3A	7156	broad.mit.edu	37	17	18208473	18208473	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:18208473C>G	ENST00000321105.5	-	5	666	c.452G>C	c.(451-453)aGa>aCa	p.R151T	TOP3A_ENST00000542570.1_Missense_Mutation_p.R56T	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	151	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.R151T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCGCCTTCTCTATCACAGTC	0.463000													39	153					0	0	0.117977	0	0
PLEC	5339	broad.mit.edu	37	8	145010069	145010069	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:145010069G>A	ENST00000322810.4	-	6	1129	c.960C>T	c.(958-960)ttC>ttT	p.F320F	PLEC_ENST00000354958.2_Silent_p.F161F|PLEC_ENST00000398774.2_Silent_p.F151F|PLEC_ENST00000527096.1_Silent_p.F210F|PLEC_ENST00000357649.2_Silent_p.F187F|PLEC_ENST00000354589.3_Silent_p.F183F|PLEC_ENST00000436759.2_Silent_p.F210F|PLEC_ENST00000345136.3_Silent_p.F183F|PLEC_ENST00000356346.3_Silent_p.F169F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	320	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.F210F(1)|p.F183F(1)|p.F320F(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTGGAGGTGAAGTTGTCGC	0.657000													19	33					0	0	0.055883	0	0
ZNF556	80032	broad.mit.edu	37	19	2877779	2877779	+	Nonsense_Mutation	SNP	C	C	T	rs139842259		TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:2877779C>T	ENST00000586426.1	+	4	907	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ZNF556_ENST00000307635.2_Nonsense_Mutation_p.R275*			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R275*(3)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAAATCCTTTCGAGTCCATAT	0.527000													26	21					0	0	0.108266	0	0
NRM	11270	broad.mit.edu	37	6	30657883	30657883	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:30657883G>A	ENST00000259953.4	-	3	622	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	NRM_ENST00000376421.5_Missense_Mutation_p.R91W|NRM_ENST00000376420.5_Missense_Mutation_p.R91W|NRM_ENST00000470733.1_5'UTR	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	91						integral to membrane|nuclear inner membrane		p.R91W(1)		large_intestine(1)|lung(2)	3						CCAAAGTACCGGGATGTCCAT	0.577000													60	113					0	0	0.139131	0	0
CDS2	8760	broad.mit.edu	37	20	5170850	5170850	+	Silent	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:5170850G>C	ENST00000460006.1	+	13	1615	c.1308G>C	c.(1306-1308)ggG>ggC	p.G436G	CDS2_ENST00000379062.4_Silent_p.G316G|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Silent_p.G206G	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	436					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	p.G436G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TCGACAAAGGGATGCTGACAT	0.572000													13	59					0	0	0.093190	0	0
UBE2J1	51465	broad.mit.edu	37	6	90052103	90052103	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:90052103G>A	ENST00000435041.2	-	3	455	c.177C>T	c.(175-177)caC>caT	p.H59H		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	59						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.H59H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTATCCGCCCGTGATAAACTC	0.438000													23	30					0	0	0.099896	0	0
CPN2	1370	broad.mit.edu	37	3	194063201	194063201	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:194063201C>T	ENST00000323830.3	-	2	320	c.231G>A	c.(229-231)aaG>aaA	p.K77K	CPN2_ENST00000429275.1_Silent_p.K77K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	77					protein stabilization	extracellular region	enzyme regulator activity	p.K77K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAAGACCACCTTGGTCAAGT	0.542000													52	247					0	0	0.139131	0	0
ASPM	259266	broad.mit.edu	37	1	197074232	197074232	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:197074232C>T	ENST00000367409.4	-	18	4405	c.4149G>A	c.(4147-4149)atG>atA	p.M1383I	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1383					mitosis	cytoplasm|nucleus	calmodulin binding	p.M1383I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAGCAATTATCATTCTTATCC	0.323000													7	47					0	0	0.029380	0	0
OPCML	4978	broad.mit.edu	37	11	132306577	132306577	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:132306577A>G	ENST00000331898.7	-	5	1339	c.761T>C	c.(760-762)tTc>tCc	p.F254S	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.F247S|OPCML_ENST00000374778.4_Missense_Mutation_p.F213S|OPCML_ENST00000541867.1_Missense_Mutation_p.F254S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	254	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.F247S(1)|p.F254S(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GAACCACTGGAATTCAGCCAT	0.493000													28	62					0	0	0.134883	0	0
TMEM8A	58986	broad.mit.edu	37	16	424341	424341	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr16:424341C>G	ENST00000431232.2	-	10	1795	c.1635G>C	c.(1633-1635)agG>agC	p.R545S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.R352S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	545					cell adhesion	integral to plasma membrane		p.R545S(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GTGTGGCCGCCCTCTGCTGGG	0.672000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	22					0	0	0.043863	0	0
PREX2	80243	broad.mit.edu	37	8	69104734	69104734	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:69104734C>T	ENST00000288368.4	+	37	4855	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1526					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.I1526I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCTGCCACATCATCATGTGCA	0.527000													8	20					0	0	0.132662	0	0
ATN1	1822	broad.mit.edu	37	12	7044920	7044920	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:7044920C>A	ENST00000356654.4	+	5	727	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	ATN1_ENST00000396684.2_Missense_Mutation_p.L164I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	164					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L164I(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCACCTCCACTCTTTCCTCC	0.597000													4	152					0.150653	0.154747	0.150653	1	0
GPR139	124274	broad.mit.edu	37	16	20043946	20043946	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr16:20043946C>A	ENST00000570682.1	-	2	473	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	58						integral to membrane|plasma membrane		p.R58I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGACTTCTGTCTTCTTGCCAC	0.458000													20	40					2.27731e-05	2.40453e-05	0.062417	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714092	70714092	+	RNA	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:70714092G>A	ENST00000530196.1	-	0	426					NR_003951.1																						AGGAGTGCACGCTCATCTGTG	0.493000													52	204					0	0	0.139131	0	0
DBN1	1627	broad.mit.edu	37	5	176887701	176887701	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:176887701C>T	ENST00000292385.5	-	10	1390	c.781G>A	c.(781-783)Gac>Aac	p.D261N	DBN1_ENST00000309007.5_Missense_Mutation_p.D259N|DBN1_ENST00000512501.1_5'UTR|DBN1_ENST00000393563.4_5'UTR|DBN1_ENST00000393565.1_Missense_Mutation_p.D259N	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	259					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.D261N(1)|p.D259N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCGATGGTCACCCTAGAAA	0.507000													48	18					0	0	0.139131	0	0
GATAD2A	54815	broad.mit.edu	37	19	19612198	19612198	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:19612198C>T	ENST00000404158.1	+	11	1894	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	GATAD2A_ENST00000360315.3_Silent_p.T491T|GATAD2A_ENST00000358713.3_Silent_p.T491T|GATAD2A_ENST00000537887.1_Silent_p.T120T|GATAD2A_ENST00000429563.2_Silent_p.T319T|GATAD2A_ENST00000252577.5_Silent_p.T491T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	491					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T491T(1)|p.T348T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGAGCCCACCGCTGCCCCAC	0.697000													7	14					0	0	0.029380	0	0
TPP1	1200	broad.mit.edu	37	11	6638045	6638045	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:6638045G>A	ENST00000533371.1	-	6	802	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	TPP1_ENST00000299427.6_Missense_Mutation_p.R245C			O14773	TPP1_HUMAN	tripeptidyl peptidase I	245					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.R245C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCGAAGAGGCGCATGAACTGA	0.592000													5	230					0	0	0.014758	0	0
HELZ	9931	broad.mit.edu	37	17	65190134	65190134	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:65190134C>T	ENST00000358691.5	-	9	672	c.506G>A	c.(505-507)cGc>cAc	p.R169H	HELZ_ENST00000580662.1_Intron|HELZ_ENST00000580168.1_Missense_Mutation_p.R169H	NM_014877.3	NP_055692.2			helicase with zinc finger									p.R169H(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGGTGGGCGGAAATGCCA	0.368000													5	9					0	0	0.014758	0	0
KANK4	163782	broad.mit.edu	37	1	62738935	62738935	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:62738935T>A	ENST00000371153.4	-	3	2219	c.1841A>T	c.(1840-1842)tAc>tTc	p.Y614F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	614								p.Y614F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGGGCCGAGTAGGCCGACAG	0.642000													18	50					0	0	0.043863	0	0
CEP350	9857	broad.mit.edu	37	1	180003196	180003196	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:180003196G>C	ENST00000367607.3	+	16	4343	c.3925G>C	c.(3925-3927)Gag>Cag	p.E1309Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1309						centrosome|nucleus|spindle		p.E1309Q(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACAACGACAGAGAACATGGC	0.383000													3	52					0	0	0.115264	0	0
PKLR	5313	broad.mit.edu	37	1	155270024	155270024	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:155270024C>T	ENST00000392414.3	-	2	168	c.55G>A	c.(55-57)Gag>Aag	p.E19K	PKLR_ENST00000342741.4_Missense_Mutation_p.E50K	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	50					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.E50K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGCCCAGCTCCTGGGTCAGT	0.637000													10	14					0	0	0.132662	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481669	43481669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:43481669C>T	ENST00000376922.2	-	6	855	c.422G>A	c.(421-423)tGg>tAg	p.W141*	ARHGAP27_ENST00000532891.2_Intron|ARHGAP27_ENST00000528384.1_Nonsense_Mutation_p.W114*|ARHGAP27_ENST00000455881.1_Nonsense_Mutation_p.W141*|ARHGAP27_ENST00000442348.1_Nonsense_Mutation_p.W455*|ARHGAP27_ENST00000428638.1_Nonsense_Mutation_p.W482*|ARHGAP27_ENST00000532038.1_Intron	NM_199282.2	NP_954976.1	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	482					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.W141*(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GACTTCCTCCCAGCTCCCAAC	0.622000													26	68					0	0	0.125774	0	0
OR2J2	26707	broad.mit.edu	37	6	29141890	29141890	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:29141890C>G	ENST00000377167.2	+	1	580	c.478C>G	c.(478-480)Cat>Gat	p.H160D		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463000													63	205					0	0	0.139131	0	0
ANKHD1	54882	broad.mit.edu	37	5	139820670	139820670	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:139820670G>A	ENST00000297183.6	+	5	980	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D286N|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D286N|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D275N|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D286N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.D286N(3)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTACTTAGATATTGTGAA	0.373000													18	14					0	0	0.062417	0	0
RRBP1	6238	broad.mit.edu	37	20	17616230	17616230	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:17616230C>A	ENST00000377813.1	-	7	2720	c.2417G>T	c.(2416-2418)cGg>cTg	p.R806L	RRBP1_ENST00000455029.2_Missense_Mutation_p.R147L|RRBP1_ENST00000246043.4_Missense_Mutation_p.R806L|RRBP1_ENST00000377807.2_Missense_Mutation_p.R373L|RRBP1_ENST00000360807.4_Missense_Mutation_p.R373L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	806					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.R373L(1)|p.R806L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAAGGCATCCCGCAGGATGGA	0.627000													17	82					8.00594e-06	8.50069e-06	0.043863	1	0
LATS2	26524	broad.mit.edu	37	13	21562678	21562678	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr13:21562678G>A	ENST00000382592.4	-	4	1646	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	LATS2_ENST00000542899.1_Missense_Mutation_p.P414L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	414					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P414L(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACCGGGCCGCGGCTGGTGGCT	0.731000													5	5					0	0	0.047766	0	0
TBX15	6913	broad.mit.edu	37	1	119467373	119467373	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:119467373A>T	ENST00000369429.3	-	4	598	c.589T>A	c.(589-591)Tat>Aat	p.Y197N	TBX15_ENST00000207157.3_Missense_Mutation_p.Y91N			Q96SF7	TBX15_HUMAN	T-box 15	197						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y91N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTGTATATAAACTCTTGGG	0.453000													9	224					0	0	0.047766	0	0
SMAD1	4086	broad.mit.edu	37	4	146467854	146467854	+	Splice_Site	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:146467854G>C	ENST00000515385.1	+	5	1317		c.e5-1		SMAD1_ENST00000394092.2_Splice_Site|SMAD1_ENST00000302085.4_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.?(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTTCCTCTAGATGTTCAGGC	0.448000													81	161					0	0	0.139131	0	0
DPY19L1	23333	broad.mit.edu	37	7	35009108	35009108	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr7:35009108G>A	ENST00000310974.4	-	9	876	c.732C>T	c.(730-732)ctC>ctT	p.L244L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	244						integral to membrane		p.L244L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGAAATGCAGAGTGCAATCA	0.353000													12	7					0	0	0.105934	0	0
FAM217B	63939	broad.mit.edu	37	20	58519680	58519680	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:58519680G>T	ENST00000358293.3	+	5	1097	c.682G>T	c.(682-684)Gct>Tct	p.A228S	FAM217B_ENST00000360816.3_Missense_Mutation_p.A228S|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	228								p.A228S(1)									TAAGCTAATTGCTAGTGCTCT	0.537000													39	65					2.59497e-14	2.93682e-14	0.098360	1	0
MTBP	27085	broad.mit.edu	37	8	121531009	121531009	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:121531009C>T	ENST00000305949.1	+	20	2607	c.2562C>T	c.(2560-2562)ttC>ttT	p.F854F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	854	Interaction with MDM2 (By similarity).				cell cycle arrest			p.F854F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGAATGTTTCACTGCATGCA	0.358000													30	55					0	0	0.153744	0	0
NACA	4666	broad.mit.edu	37	12	57111976	57111976	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:57111976G>A	ENST00000454682.1	-	3	3619	c.3338C>T	c.(3337-3339)cCa>cTa	p.P1113L	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTCCTTTTGGGGAGGGAGG	0.647000			T	BCL6	NHL								70	82					0	0	0.139131	0	0
LINC00477	144360	broad.mit.edu	37	12	24736455	24736455	+	RNA	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:24736455G>A	ENST00000483544.1	-	0	647					NR_029451.2																						AGAAAAGGAAGTCATCTCTGG	0.537000													23	37					0	0	0.069288	0	0
KLHL9	55958	broad.mit.edu	37	9	21333798	21333798	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr9:21333798C>G	ENST00000359039.4	-	1	1581	c.1061G>C	c.(1060-1062)gGt>gCt	p.G354A	KLHL9_ENST00000537938.1_Missense_Mutation_p.G286A			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	354					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.G354A(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTACTCTGACCACCAACTAC	0.388000													34	97					0	0	0.064281	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319634	130319634	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:130319634C>T	ENST00000299164.2	+	1	766	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	256	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P256S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTACCGCCATCCCAGCATCCT	0.612000											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18					0	0	0.069234	0	0
CABIN1	23523	broad.mit.edu	37	22	24451495	24451495	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:24451495C>A	ENST00000398319.2	+	9	1351	c.966C>A	c.(964-966)atC>atA	p.I322I	CABIN1_ENST00000263119.5_Silent_p.I322I|CABIN1_ENST00000405822.2_Silent_p.I272I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	322					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.I322I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTAACGTGATCCAGCCAAGCA	0.592000													30	64					1.47197e-15	1.69635e-15	0.098360	1	0
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:7578535T>C	ENST00000420246.2	-	5	527	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)		GCAAAACATCTTGTTGAGGGC	0.562000		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)			30	21					0	0	0.163468	0	0
HPS3	84343	broad.mit.edu	37	3	148858845	148858845	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:148858845G>C	ENST00000296051.2	+	3	894	c.754G>C	c.(754-756)Gtc>Ctc	p.V252L	HPS3_ENST00000460120.1_Missense_Mutation_p.V87L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	252						cytoplasm		p.V252L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGATGATTTTGTCATCTGCCA	0.358000									Hermansky-Pudlak syndrome				25	121					0	0	0.134883	0	0
SDPR	8436	broad.mit.edu	37	2	192711260	192711260	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:192711260C>T	ENST00000304141.4	-	1	721	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	131						caveola|cytosol	phosphatidylserine binding|protein binding	p.R131H(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCTATCCATGCGCTCTTTGAC	0.602000													31	78					0	0	0.144211	0	0
TSR1	55720	broad.mit.edu	37	17	2232642	2232642	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:2232642G>C	ENST00000301364.4	-	11	2977	c.1898C>G	c.(1897-1899)aCt>aGt	p.T633S		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	633					ribosome assembly	nucleolus	protein binding	p.T633S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTAACCTGCAGTGTGCTGAGA	0.478000													34	31					0	0	0.064281	0	0
CD109	135228	broad.mit.edu	37	6	74468721	74468721	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:74468721C>G	ENST00000437994.2	+	7	1159	c.728C>G	c.(727-729)tCt>tGt	p.S243C	CD109_ENST00000287097.5_Missense_Mutation_p.S243C|CD109_ENST00000422508.2_Missense_Mutation_p.S166C	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	243						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.S243C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTATGAATTCTAAGCATTTA	0.313000													17	26					0	0	0.049695	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137954	140137954	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr9:140137954C>A	ENST00000340384.4	+	4	1432	c.1284C>A	c.(1282-1284)gcC>gcA	p.A428A		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	428					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	p.A428A(1)									ACCAGGATGCCACAGCCGAGG	0.592000													51	46					6.9144e-35	8.219e-35	0.139131	1	0
SLC9A9	285195	broad.mit.edu	37	3	143550916	143550916	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:143550916C>T	ENST00000316549.6	-	2	531	c.323G>A	c.(322-324)aGa>aAa	p.R108K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	108					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.R108K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACTTATTTCTCTTTTGTATTT	0.318000													19	48					0	0	0.076483	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454687	6454687	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:6454687G>A	ENST00000301454.4	-	5	631	c.525C>T	c.(523-525)ttC>ttT	p.F175F	SLC25A23_ENST00000334510.5_Silent_p.F175F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	175					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.F175F(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTTGCTTTGAGAACTCGTCCG	0.617000													29	14					0	0	0.163468	0	0
ENPP3	5169	broad.mit.edu	37	6	132054832	132054832	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:132054832G>T	ENST00000414305.1	+	22	2386	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ENPP3_ENST00000357639.3_Missense_Mutation_p.K686N|ENPP3_ENST00000358229.5_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	686	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.K686N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAGCAGACAAGAATATCACCC	0.493000													7	132					0.000274275	0.000287989	0.047766	1	0
FAT4	79633	broad.mit.edu	37	4	126239448	126239448	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:126239448G>A	ENST00000394329.3	+	1	1895	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	628	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D628N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCAGAGACTGACCGGAGGTC	0.552000													41	95					0	0	0.117977	0	0
STIP1	10963	broad.mit.edu	37	11	63967504	63967504	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:63967504G>A	ENST00000358794.5	+	9	1810	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	STIP1_ENST00000538945.1_Silent_p.Q348Q|STIP1_ENST00000305218.4_Silent_p.Q372Q			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	372					axon guidance|response to stress	Golgi apparatus|nucleus		p.Q372Q(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGTGTTTTCAGAAAGGTACTG	0.557000													30	190					0	0	0.153744	0	0
OR2J2	26707	broad.mit.edu	37	6	29142165	29142165	+	Silent	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:29142165C>G	ENST00000377167.2	+	1	855	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L251L(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTGTATCTCTCTTTTTCATTC	0.468000													44	94					0	0	0.139131	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43522871	43522871	+	Silent	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:43522871C>A	ENST00000430334.3	-	9	2935	c.2802G>T	c.(2800-2802)ctG>ctT	p.L934L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L845L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	934					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CACTCCGGCACAGGCCCAGGT	0.587000													30	105					1.36161e-19	1.5788e-19	0.069456	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	57					0	0	0.115264	0	0
LPL	4023	broad.mit.edu	37	8	19809451	19809451	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:19809451T>C	ENST00000311322.8	+	3	891	c.421T>C	c.(421-423)Tgg>Cgg	p.W141R		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	141					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.W141R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GTTTATCAACTGGATGGAGGT	0.507000													29	67					0	0	0.134883	0	0
ASUN	55726	broad.mit.edu	37	12	27070632	27070632	+	Silent	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:27070632G>T	ENST00000261191.7	-	9	1460	c.924C>A	c.(922-924)ggC>ggA	p.G308G	ASUN_ENST00000539625.1_Silent_p.G207G	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	308					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.G308G(1)									CTTTAAACGAGCCTTCTCGAC	0.353000													3	42					0.150653	0.154747	0.150653	1	0
TRMT6	51605	broad.mit.edu	37	20	5921732	5921732	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:5921732G>A	ENST00000203001.2	-	10	1399	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	TRMT6_ENST00000453074.2_Silent_p.L253L|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	423					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.L423L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CAGACAGCCTGAGGTTGATGA	0.498000													121	196					0	0	0.139131	0	0
GTSF1	121355	broad.mit.edu	37	12	54858851	54858851	+	Splice_Site	SNP	C	C	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:54858851C>A	ENST00000552397.1	-	3	1013	c.117_splice	c.e3+1	p.K39_splice	RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Splice_Site_p.K39_splice|GTSF1_ENST00000552395.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	39							metal ion binding	p.K39N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				ATGACCCTACCTTTCTGCACT	0.388000													49	69					2.23044e-30	2.61834e-30	0.139131	1	0
BIRC6	57448	broad.mit.edu	37	2	32715142	32715142	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:32715142G>C	ENST00000421745.2	+	43	8264	c.8130G>C	c.(8128-8130)tgG>tgC	p.W2710C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2710					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.W2682C(1)|p.W2710C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTAGCTTGGTATCCCAATA	0.343000													81	208					0	0	0.139131	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22266023	22266023	+	RNA	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:22266023G>A	ENST00000390430.2	+	0	438																											CTGTGCAGTGGAGTGACACAG	0.463000													27	33					0	0	0.153744	0	0
GALNT5	11227	broad.mit.edu	37	2	158115453	158115453	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:158115453C>T	ENST00000259056.4	+	1	1344	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	287					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R287C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAATTCAAATCGCTTAAGGAA	0.393000													6	212					0	0	0.021553	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349763	25349763	+	RNA	SNP	T	T	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr15:25349763T>A	ENST00000546682.1	+	0	2233				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TATCTCAGGTTCAAAGTCCCT	0.453000													28	17					0	0	0.116897	0	0
STOX1	219736	broad.mit.edu	37	10	70644771	70644771	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:70644771C>G	ENST00000298596.6	+	3	1302	c.1219C>G	c.(1219-1221)Cct>Gct	p.P407A	STOX1_ENST00000399169.4_Missense_Mutation_p.P407A|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.P297A|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	407						cytoplasm|nucleolus	DNA binding	p.P407A(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GCATAAGTATCCTTCAAAAGA	0.443000													106	176					0	0	0.139131	0	0
ITPR2	3709	broad.mit.edu	37	12	26775203	26775203	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:26775203C>T	ENST00000381340.3	-	25	3674	c.3258G>A	c.(3256-3258)caG>caA	p.Q1086Q	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1086					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.Q1086Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCTCTGCCCTCTGGCTGAAGT	0.483000													22	22					0	0	0.069288	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113552	34113552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:34113552C>T	ENST00000341394.4	+	15	1843	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.Q552*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.Q471*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.Q552*|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.Q552*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	552					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	p.Q552*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTTTTCTAGTCAGCCTCACCA	0.438000													25	53					0	0	0.083992	0	0
RYR2	6262	broad.mit.edu	37	1	237936919	237936919	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:237936919G>T	ENST00000366574.2	+	87	12063	c.11746G>T	c.(11746-11748)Gtc>Ttc	p.V3916F	RYR2_ENST00000542537.1_Missense_Mutation_p.V3900F|RYR2_ENST00000360064.6_Missense_Mutation_p.V3922F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3916					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V3914F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAAAACAAGTCTTTAACAC	0.353000													8	9					1.26484e-09	1.38182e-09	0.038147	1	0
ACSS1	84532	broad.mit.edu	37	20	24994617	24994617	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:24994617G>A	ENST00000537502.1	-	7	2714	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	ACSS1_ENST00000323482.4_Missense_Mutation_p.P478S|ACSS1_ENST00000432802.2_Missense_Mutation_p.P478S|ACSS1_ENST00000542618.1_Missense_Mutation_p.P357S			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	478					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	p.P478S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGAGGACGGGGACGATGCCA	0.622000													12	39					0	0	0.105934	0	0
LOC401127	401127	broad.mit.edu	37	4	39482024	39482024	+	RNA	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:39482024G>A	ENST00000513652.1	+	0	150																											CCGAGCGCCCGGCCCTCCGCA	0.637000													6	11					0	0	0.047766	0	0
USP9X	8239	broad.mit.edu	37	X	41025388	41025388	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chrX:41025388G>A	ENST00000324545.7	+	16	2882	c.2249G>A	c.(2248-2250)cGa>cAa	p.R750Q	USP9X_ENST00000378308.2_Missense_Mutation_p.R750Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	750					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R750Q(1)|p.R743Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGAATTGTCGAGAAGGAAAA	0.378000													44	36					0	0	0.139131	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678377	131678377	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr9:131678377C>T	ENST00000259324.5	+	4	2683	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	LRRC8A_ENST00000372599.3_Silent_p.I720I|LRRC8A_ENST00000372600.4_Silent_p.I720I|LRRC8A_ENST00000492784.1_3'UTR	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	720					pre-B cell differentiation	integral to membrane		p.I720I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCCTCCAGATCGAGACGCTCC	0.632000													69	54					0	0	0.139131	0	0
TBC1D5	9779	broad.mit.edu	37	3	17550017	17550017	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:17550017C>T	ENST00000253692.7	-	3	1710	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.E16K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E16K|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	16						intracellular	protein binding|Rab GTPase activator activity	p.E16K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTTCTTGTTCTTCTGGCTGC	0.428000													48	96					0	0	0.139131	0	0
MFN2	9927	broad.mit.edu	37	1	12064925	12064925	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr1:12064925C>G	ENST00000235329.5	+	14	1758	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	MFN2_ENST00000444836.1_Missense_Mutation_p.S479C	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	479					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.S177C(1)|p.S479C(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGAAACATGTCTGACCGCTGC	0.572000													16	28					0	0	0.055883	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964043	88964043	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr7:88964043T>G	ENST00000333190.4	+	4	2356	c.1747T>G	c.(1747-1749)Tac>Gac	p.Y583D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	583						intracellular	zinc ion binding	p.Y583D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTGCCTCTTTACCTCAACAC	0.383000										HNSCC(36;0.09)			27	17					0	0	0.116897	0	0
USP28	57646	broad.mit.edu	37	11	113700169	113700169	+	Translation_Start_Site	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:113700169G>C	ENST00000544967.1	-	0	20				USP28_ENST00000537706.1_Intron|USP28_ENST00000545540.1_Intron|USP28_ENST00000003302.4_Intron|USP28_ENST00000260188.5_Intron			Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCAACTTCCTGATAGCTGGTT	0.388000													13	19					0	0	0.105934	0	0
ROPN1L	83853	broad.mit.edu	37	5	10442326	10442326	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:10442326C>T	ENST00000503804.1	+	2	568	c.47C>T	c.(46-48)cCc>cTc	p.P16L	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.P16L			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	16					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	p.P16L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCACATTCCCCCGGAGCTG	0.662000													35	69					0	0	0.069456	0	0
FOXK2	3607	broad.mit.edu	37	17	80545103	80545103	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:80545103C>T	ENST00000335255.5	+	8	1915	c.1741C>T	c.(1741-1743)Cac>Tac	p.H581Y		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	581					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.H581Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AAACGGCACTCACGTGGCATC	0.582000													31	61					0	0	0.183431	0	0
CACNG4	27092	broad.mit.edu	37	17	64961111	64961111	+	Silent	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr17:64961111C>T	ENST00000262138.3	+	1	86	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	28					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.I28I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCATCGCCATCGGCACCGACT	0.697000													11	12					0	0	0.093190	0	0
TACC3	10460	broad.mit.edu	37	4	1725529	1725529	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:1725529G>T	ENST00000313288.4	+	3	343	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	79						centrosome		p.E79D(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAAACTTGAGGCTCCTTTCA	0.537000													43	302					8.01111e-26	9.34629e-26	0.117977	1	0
WDR70	55100	broad.mit.edu	37	5	37480018	37480018	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr5:37480018G>C	ENST00000265107.4	+	8	925	c.769G>C	c.(769-771)Gac>Cac	p.D257H	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.D257H	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	257								p.D257H(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAGGTGATTGACAGAGATGG	0.378000													16	140					0	0	0.132662	0	0
SLC22A23	63027	broad.mit.edu	37	6	3287315	3287315	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:3287315A>C	ENST00000436008.2	-	7	1786	c.1324T>G	c.(1324-1326)Tac>Gac	p.Y442D	SLC22A23_ENST00000406686.3_Missense_Mutation_p.Y442D|SLC22A23_ENST00000380302.4_Missense_Mutation_p.Y161D|SLC22A23_ENST00000490273.1_Missense_Mutation_p.Y161D|PSMG4_ENST00000451246.2_Intron			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	442					ion transport	integral to membrane	transmembrane transporter activity	p.Y161D(1)|p.Y442D(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGGATCCCGTACCCCGTCAGC	0.627000													5	33					0	0	0.132662	0	0
TFPI	7035	broad.mit.edu	37	2	188343416	188343416	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:188343416G>A	ENST00000409676.1	-	8	1007	c.743C>T	c.(742-744)tCa>tTa	p.S248L	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.S248L|TFPI_ENST00000392365.1_Intron			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.S248L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACATAGGCATGAAATGCTATC	0.338000													15	42					0	0	0.175082	0	0
CCNA2	890	broad.mit.edu	37	4	122740048	122740048	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr4:122740048C>G	ENST00000274026.5	-	6	1326	c.1023G>C	c.(1021-1023)ttG>ttC	p.L341F		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	341					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	p.L341F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CAGCATCTATCAAACTTAATT	0.378000													3	67					0	0	0.115264	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	78					0	0	0.029380	0	0
FYCO1	79443	broad.mit.edu	37	3	46009262	46009262	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:46009262G>A	ENST00000296137.2	-	8	1769	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	FYCO1_ENST00000535325.1_Silent_p.L522L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	522					transport	integral to membrane	metal ion binding|protein binding	p.L522L(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACCTGTGCCAGCTGGGTCTCC	0.582000													59	124					0	0	0.139131	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656212	138656212	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr6:138656212C>T	ENST00000251691.4	+	33	6395	c.6229C>T	c.(6229-6231)Cgg>Tgg	p.R2077W		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2077					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R2006W(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGGCAAATGCGGCATTCCTT	0.637000													5	9					0	0	0.021553	0	0
RASAL1	8437	broad.mit.edu	37	12	113559367	113559367	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:113559367C>G	ENST00000546530.1	-	6	660	c.375G>C	c.(373-375)caG>caC	p.Q125H	RASAL1_ENST00000261729.5_Missense_Mutation_p.Q125H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q125H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q125H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	125	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.Q125H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCTCCAGCATCTGCACTGACA	0.567000													47	88					0	0	0.139131	0	0
ACAD9	28976	broad.mit.edu	37	3	128621404	128621404	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:128621404G>C	ENST00000308982.7	+	9	972	c.891G>C	c.(889-891)atG>atC	p.M297I	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	297						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.M297I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTGGCCATGAACATCCTCA	0.612000													25	127					0	0	0.173368	0	0
MKKS	8195	broad.mit.edu	37	20	10394084	10394084	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr20:10394084A>C	ENST00000347364.2	-	3	841	c.79T>G	c.(79-81)Tct>Gct	p.S27A		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	27					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	p.S27A(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTCAAGACAGAAAGTGTGGTC	0.458000													93	91					0	0	0.139131	0	0
SLC25A45	283130	broad.mit.edu	37	11	65149419	65149419	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:65149419G>A	ENST00000534028.1	-	1	425	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	SLC25A45_ENST00000398802.1_Missense_Mutation_p.P2S|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000527174.1_Missense_Mutation_p.P2S|SLC25A45_ENST00000294187.6_Intron|SLC25A45_ENST00000360662.3_Missense_Mutation_p.P2S|SLC25A45_ENST00000526432.1_Missense_Mutation_p.P2S|SLC25A45_ENST00000417511.2_5'UTR	NM_001278250.1	NP_001265179.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	2					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.P2S(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCCTCCACCGGCATTGTCTGG	0.552000													4	163					0	0	0.014758	0	0
NT5C2	22978	broad.mit.edu	37	10	104850489	104850489	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:104850489C>T	ENST00000343289.5	-	17	1415	c.1328G>A	c.(1327-1329)aGt>aAt	p.S443N	NT5C2_ENST00000404739.3_Missense_Mutation_p.S443N|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.S414N	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	443					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	p.S443N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CCGGGAGCCACTGCGAAACAG	0.443000													23	44					0	0	0.134883	0	0
NOVA2	4858	broad.mit.edu	37	19	46443289	46443289	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:46443289G>A	ENST00000263257.5	-	4	1505	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	437	KH 3.					nucleus	RNA binding	p.G437G(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGATGCGAGCGCCCGTCAGCT	0.662000													12	677					0	0	0.119110	0	0
NUDT22	84304	broad.mit.edu	37	11	63997583	63997583	+	RNA	SNP	A	A	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:63997583A>C	ENST00000534988.1	-	0	99																											AAAAAAAAAAACCCGCCCAGC	0.532000													9	2					0	0	0.108266	0	0
NNMT	4837	broad.mit.edu	37	11	114167355	114167355	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:114167355A>G	ENST00000535401.1	+	3	341	c.77A>G	c.(76-78)aAg>aGg	p.K26R	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.K26R			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	26					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.K26R(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AAATATTACAAGTTTGGTTCT	0.413000													34	74					0	0	0.074837	0	0
XIRP2	129446	broad.mit.edu	37	2	168100783	168100783	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:168100783G>A	ENST00000409195.1	+	9	2970	c.2881G>A	c.(2881-2883)Gat>Aat	p.D961N	XIRP2_ENST00000295237.9_Missense_Mutation_p.D961N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D739N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	786					actin cytoskeleton organization	cell junction	actin binding	p.D961N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTAAATTTGATGCATCACA	0.353000													33	60					0	0	0.153744	0	0
STIP1	10963	broad.mit.edu	37	11	63971036	63971036	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:63971036G>A	ENST00000358794.5	+	13	2195	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	STIP1_ENST00000538945.1_Missense_Mutation_p.D477N|STIP1_ENST00000305218.4_Missense_Mutation_p.D501N			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	501					axon guidance|response to stress	Golgi apparatus|nucleus		p.D501N(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GATCATGAGTGACCCAGCCAT	0.592000													19	108					0	0	0.055883	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195626	18195626	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:18195626G>A	ENST00000314254.3	+	1	1243	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	275						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V275M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTACTTCTTCGTGGGCTCCTT	0.483000													82	113					0	0	0.139131	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827179	5827179	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chrX:5827179C>T	ENST00000381095.3	-	4	1354	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	NLGN4X_ENST00000538097.1_Missense_Mutation_p.G243R|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G243R|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G263R|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G243R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	243					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G243R(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTGGGGTCCCCGCCAAAGGCT	0.562000													24	19					0	0	0.125774	0	0
ADAM21	8747	broad.mit.edu	37	14	70924502	70924502	+	Missense_Mutation	SNP	C	C	T	rs144574931	byFrequency	TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:70924502C>T	ENST00000603540.1	+	2	544	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.R96C	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	96					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R96C(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CACAGATGACCGTGCACTCCT	0.498000													11	147					0	0	0.091800	0	0
C10orf90	118611	broad.mit.edu	37	10	128114599	128114599	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr10:128114599G>A	ENST00000284694.7	-	8	2142	c.2022C>T	c.(2020-2022)atC>atT	p.I674I	C10orf90_ENST00000544758.1_Silent_p.I771I|C10orf90_ENST00000356858.3_Silent_p.I627I|C10orf90_ENST00000480379.1_Silent_p.I78I|C10orf90_ENST00000454341.1_Silent_p.I577I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	674								p.I674I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TACTTTGTAAGATCACCCTTT	0.418000													73	154					0	0	0.139131	0	0
ATP8B3	148229	broad.mit.edu	37	19	1800443	1800443	+	Silent	SNP	G	G	A			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:1800443G>A	ENST00000539485.1	-	13	1391	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ATP8B3_ENST00000525591.1_Silent_p.F339F|ATP8B3_ENST00000526092.1_Silent_p.F333F|ATP8B3_ENST00000310127.6_Silent_p.F386F			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	386					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F386F(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		CCACGGAGATGAAGATCTGGA	0.587000													44	38					0	0	0.117977	0	0
ADRBK2	157	broad.mit.edu	37	22	26118409	26118409	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:26118409G>T	ENST00000324198.5	+	21	2251	c.2059G>T	c.(2059-2061)Ggc>Tgc	p.G687C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	687							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.G687C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AAACAGCAACGGCCTCTAGCA	0.577000													9	39					5.03518e-11	5.59794e-11	0.043863	1	0
EXOC3L1	283849	broad.mit.edu	37	16	67220984	67220984	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr16:67220984C>G	ENST00000314586.6	-	6	1338	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	366	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		p.E366D(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGAAGGGGCTCCAGCTGGG	0.567000													69	128					0	0	0.139131	0	0
MEI1	150365	broad.mit.edu	37	22	42099416	42099416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:42099416C>T	ENST00000401548.3	+	2	296	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	86							binding	p.Q86*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTGGTGTCTCAGGATCAGAG	0.423000													8	12					0	0	0.047766	0	0
RIMS2	9699	broad.mit.edu	37	8	105105725	105105725	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:105105725A>T	ENST00000436393.2	+	21	2989	c.2748A>T	c.(2746-2748)agA>agT	p.R916S	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	370					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCCTCATAGAGGGGCAGATA	0.403000										HNSCC(12;0.0054)			38	62					0	0	0.104719	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	5	---	---	---	---					
NCEH1	57552	broad.mit.edu	37	3	172365826	172365826	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr3:172365826delT	ENST00000475381.1	-	2	450	c.217delA	c.(217-219)gcfs	p.S73fs	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Frame_Shift_Del_p.S105fs|NCEH1_ENST00000538775.1_Frame_Shift_Del_p.S105fs			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	73					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GACCACGCGCTTTTTTTGCCA	0.507													16	1807	---	---	---	---					
UBXN8	7993	broad.mit.edu	37	8	30612474	30612474	+	RNA	DEL	T	T	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr8:30612474delT	ENST00000519246.1	+	0	604							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GGGTTGGTCGttttttttttt	0.393													3	4	---	---	---	---					
FAM120A	23196	broad.mit.edu	37	9	96323398	96323403	+	In_Frame_Del	DEL	ACCTAT	ACCTAT	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr9:96323398_96323403delACCTAT	ENST00000277165.6	+	16	3008_3013	c.2814_2819delACCTAT	c.(2812-2820)caa>ca	p.QPI938del	FAM120A_ENST00000340893.4_In_Frame_Del_p.QPI892del|FAM120A_ENST00000333936.5_In_Frame_Del_p.QPI966del	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	938	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGAGTCCAACCTATACCTTCTCAG	0.466													25	54	---	---	---	---					
FKBP2	2286	broad.mit.edu	37	11	64010672	64010678	+	Splice_Site	DEL	GGAAGCT	GGAAGCT	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:64010672_64010678delGGAAGCT	ENST00000394540.3	+	3	643_649	c.171_splice	c.e3-1	p.GKL58_splice	FKBP2_ENST00000449942.2_Splice_Site_p.GKL58_splice|FKBP2_ENST00000309366.4_Splice_Site_p.GKL58_splice	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	58	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						GTTCCACAGGGGAAGCTGGAAGATGGG	0.633													12	205	---	---	---	---					
PRKRIR	5612	broad.mit.edu	37	11	76062227	76062228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr11:76062227_76062228insT	ENST00000260045.3	-	5	2071_2072	c.1966_1967insA	c.(1966-1968)agafs	p.R656fs		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	656					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGGAAGCTCTATATCTTTCCCC	0.455													56	119	---	---	---	---					
IPO8	10526	broad.mit.edu	37	12	30818182	30818184	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr12:30818182_30818184delAAT	ENST00000256079.4	-	13	1736_1738	c.1398_1400delATT	c.(1396-1401)ttg>tt	p.LL466del	IPO8_ENST00000544829.1_In_Frame_Del_p.LL261del	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	466					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGTTAGACAATAATAATGGAA	0.266													34	76	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													8	29	---	---	---	---					
DIO2	1734	broad.mit.edu	37	14	80677711	80677712	+	Frame_Shift_Ins	INS	-	-	TCAA			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr14:80677711_80677712insTCAA	ENST00000557010.1	-	3	489_490	c.104_105insTTGA	c.(103-105)acafs	p.T35fs	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Frame_Shift_Ins_p.T35fs|DIO2_ENST00000438257.4_Frame_Shift_Ins_p.T35fs|DIO2_ENST00000555750.1_Frame_Shift_Ins_p.T35fs	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	35					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCACCACGTGCTTGAGCAGAAT	0.569													13	44	---	---	---	---					
AMDHD2	51005	broad.mit.edu	37	16	2578341	2578341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr16:2578341delC	ENST00000302956.4	+	7	916	c.822delC	c.(820-822)aafs	p.N274fs	AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.N274fs|AMDHD2_ENST00000293971.6_Frame_Shift_Del_p.N274fs|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	274					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CGCACACCAACCCCGCCGCCC	0.672													29	49	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:45567607_45567609delCTC	ENST00000544944.2	+	12	1820_1822	c.1128_1130delCTC	c.(1126-1131)cgc>cg	p.RS376del	CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	376	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744													2	4	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													14	1072	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917921	39917922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-38-4630-01A-01D-1265-08	TCGA-38-4630-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b139bb4-5a29-4684-901d-8d966ff79ac2	de9e8453-0a61-4ef9-9e4f-92deac3e6e02	g.chr22:39917921_39917922insC	ENST00000337304.2	+	2	1252_1253	c.370_371insC	c.(370-372)cccfs	p.P124fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P124fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P124fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	124					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TGATCTCTTTGCCCCCCTAGTC	0.520													103	362	---	---	---	---					
