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
DUSP2	1844	broad.mit.edu	37	2	96811088	96811088	+	Silent	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:96811088C>A	ENST00000288943.4	-	1	91	c.6G>T	c.(4-6)ggG>ggT	p.G2G		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	2					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CCGCCTCCAGCCCCATGGCCA	0.746000													4	15					0.014758	0.0151605	1	1	0
MC1R	4157	broad.mit.edu	37	16	89986383	89986383	+	Silent	SNP	C	C	T	rs34490506		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:89986383C>T	ENST00000555427.1	+	3	3020	c.717C>T	c.(715-717)ggC>ggT	p.G239G	TUBB3_ENST00000556922.1_Silent_p.G239G|MC1R_ENST00000555147.1_Silent_p.G239G|RP11-566K11.4_ENST00000554623.1_RNA					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCTTAAAGGCGCTGTCACCC	0.652000									Melanoma, Familial Clustering of				27	54					0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519756	58519756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:58519756A>G	ENST00000358293.3	+	5	1173	c.758A>G	c.(757-759)cAc>cGc	p.H253R	FAM217B_ENST00000360816.3_Missense_Mutation_p.H253R|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	253																	AAAGCTTTTCACCATGAAGAA	0.488000													38	86					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206037056	206037056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206037056G>A	ENST00000406610.2	+	12	1949	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	PARD3B_ENST00000462231.1_Missense_Mutation_p.R581Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.R581Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.R519Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R581Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	581	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAAACATCCGAGGGATGATC	0.493000													19	34					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													29	71					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205374	67205374	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:67205374G>T	ENST00000544246.1	-	4	3999	c.3308C>A	c.(3307-3309)aCt>aAt	p.T1103N	PCDH9_ENST00000377865.2_Missense_Mutation_p.T1103N|PCDH9_ENST00000328454.5_Missense_Mutation_p.T1069N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T1069N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1103					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCTGCTTCAGTCCTCTTGTC	0.502000													23	87					1.26454e-06	1.37397e-06	1	1	0
HTR1E	3354	broad.mit.edu	37	6	87725712	87725712	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:87725712G>A	ENST00000305344.4	+	2	1363	c.660G>A	c.(658-660)cgG>cgA	p.R220R	HTR1E_ENST00000369584.1_Silent_p.R220R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	220					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCAAGTCGGCACTTAAGCA	0.458000													39	99					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31324917	31324917	+	Nonsense_Mutation	SNP	G	G	A	rs41553720		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:31324917G>A	ENST00000412585.2	-	1	47	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				10	6					0	0	1	0	0
TIMM23	100287932	broad.mit.edu	37	10	51592529	51592529	+	Missense_Mutation	SNP	C	C	T	rs150556806		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr10:51592529C>T	ENST00000260867.4	-	7	728	c.605G>A	c.(604-606)gGc>gAc	p.G202D	TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374065.3_Missense_Mutation_p.G165D|TIMM23_ENST00000374064.3_Missense_Mutation_p.G154D	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	202					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						GAGCAAGGAGCCTTTCATGTG	0.443000													13	44					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150436431	150436431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:150436431G>A	ENST00000389378.2	-	6	1111	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S	TNIP1_ENST00000524280.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523200.1_Missense_Mutation_p.P175S|TNIP1_ENST00000521591.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523338.1_Missense_Mutation_p.P175S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P175S|TNIP1_ENST00000520931.1_Missense_Mutation_p.P122S|TNIP1_ENST00000315050.7_Missense_Mutation_p.P175S|TNIP1_ENST00000522226.1_Missense_Mutation_p.P175S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	175	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGTGGTCCGGCTCCTCGGCA	0.652000													12	48					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926628	130926628	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:130926628G>A	ENST00000261655.4	-	8	1381	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	RIMBP2_ENST00000536002.1_Silent_p.S314S|RIMBP2_ENST00000535703.1_Silent_p.S314S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	406	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGCTGGGCGGAGATCTGCG	0.627000													3	33					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850437	189850437	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:189850437G>A	ENST00000304636.3	+	4	550	c.380G>A	c.(379-381)gGa>gAa	p.G127E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G127E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	127					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTATTCCAGGACAACCAGGG	0.443000													6	34					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100087838	100087838	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:100087838C>A	ENST00000415585.2	+	11	1229	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.L383I			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	383	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GCCCAGACCTCTAATGGCAGA	0.562000													7	13					0.0293803	0.0299097	1	1	0
EP300	2033	broad.mit.edu	37	22	41569760	41569760	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:41569760T>C	ENST00000263253.7	+	29	5970	c.4751T>C	c.(4750-4752)cTa>cCa	p.L1584P	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1584	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCACAGAAACTATATGCCACC	0.468000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				69	166					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194149619	194149619	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:194149619A>G	ENST00000439040.1	-	28	3693	c.2902T>C	c.(2902-2904)Ttt>Ctt	p.F968L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.F968L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	968					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATGAAGAGAAACTGGAAGTCT	0.294000													6	12					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012508	31012508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:31012508C>A	ENST00000215095.5	-	3	343	c.112G>T	c.(112-114)Gag>Tag	p.E38*	STX1B_ENST00000565419.1_Nonsense_Mutation_p.E38*	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	38					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCCCGGATCTCTTCCACCTGG	0.577000													13	18					0.0135373	0.0140341	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101906469	101906469	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr15:101906469T>C	ENST00000348070.1	-	14	1786	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	PCSK6_ENST00000358417.3_Missense_Mutation_p.K596R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.K431R|PCSK6_ENST00000344273.2_Missense_Mutation_p.K596R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K596R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	597	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTTCAGCCTTTTCTCCCCA	0.507000													3	42					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031072	119031072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:119031072G>A	ENST00000307417.3	+	13	1937	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	ABCG4_ENST00000531739.1_Missense_Mutation_p.G525R|ABCG4_ENST00000449422.2_Missense_Mutation_p.G525R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	525	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGCTGATCGGAGCTGCTTC	0.642000													32	47					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687883	158687883	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:158687883G>A	ENST00000368146.1	-	1	70	c.71C>T	c.(70-72)aCa>aTa	p.T24I	OR6K3_ENST00000368145.1_Missense_Mutation_p.T8I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTCAGTCACTGTTGATTGGTT	0.378000													20	58					0	0	1	0	0
MYOD1	4654	broad.mit.edu	37	11	17741780	17741780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:17741780C>T	ENST00000250003.3	+	1	666	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GGAGATCCTGCGCAACGCCAT	0.667000													7	37					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394621	29394621	+	Silent	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:29394621G>T	ENST00000377149.1	-	5	1270	c.798C>A	c.(796-798)gtC>gtA	p.V266V	OR11A1_ENST00000377148.1_Silent_p.V266V|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.V266V			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCTGGGAATGGACAGCAGAGG	0.512000													18	66					6.94344e-10	7.92534e-10	1	1	0
KCNQ5	56479	broad.mit.edu	37	6	73900322	73900322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:73900322G>A	ENST00000342056.2	+	13	2059	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	KCNQ5_ENST00000355194.4_Missense_Mutation_p.R535Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R535Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R545Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R536Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R425Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R526Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	535					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTGCAAAACGGAAGTTTAAG	0.289000													8	20					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733281	40733281	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:40733281G>T	ENST00000373198.3	-	26	3769	c.3534C>A	c.(3532-3534)ttC>ttA	p.F1178L	PTPRT_ENST00000373190.1_Missense_Mutation_p.F1155L|PTPRT_ENST00000373187.1_Missense_Mutation_p.F1156L|PTPRT_ENST00000373201.1_Missense_Mutation_p.F1146L|PTPRT_ENST00000356100.2_Missense_Mutation_p.F1165L|PTPRT_ENST00000373193.3_Missense_Mutation_p.F1159L|PTPRT_ENST00000373184.1_Missense_Mutation_p.F1166L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1156	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGAGAACGGAACTCACACA	0.507000													22	50					1.55795e-14	1.81493e-14	1	1	0
TP53	7157	broad.mit.edu	37	17	7579313	7579313	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7579313G>A	ENST00000420246.2	-	4	506	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		GCAACTGACCGTGCAAGTCAC	0.542000		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)			24	83					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62551041	62551041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:62551041G>A	ENST00000430451.2	+	5	1759	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	521	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACAACGGGGCGATTATCTGTG	0.537000													17	38					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957167	49957167	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:49957167T>C	ENST00000376056.2	-	5	2320	c.2170A>G	c.(2170-2172)Aag>Gag	p.K724E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.K733E|AKAP4_ENST00000376064.3_Missense_Mutation_p.K724E|AKAP4_ENST00000376058.2_Missense_Mutation_p.K350E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	733					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AAATTGGGCTTATTTGCCGAG	0.463000													11	32					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347648	113347648	+	Silent	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:113347648A>G	ENST00000297405.5	-	45	7319	c.7075T>C	c.(7075-7077)Ttg>Ctg	p.L2359L	CSMD3_ENST00000343508.3_Silent_p.L2319L|CSMD3_ENST00000352409.3_Silent_p.L2289L|CSMD3_ENST00000455883.2_Silent_p.L2255L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2359	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGATTCCAAAGCGGTATTG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	41					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160804	38160804	+	Silent	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:38160804A>G	ENST00000358582.4	-	4	994	c.246T>C	c.(244-246)acT>acC	p.T82T	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.T82T	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CACTAGTGTGAGTTCTCTTAT	0.388000													30	68					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547000													12	43					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141284	114141284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:114141284C>T	ENST00000276198.1	+	6	1411	c.683C>T	c.(682-684)aCg>aTg	p.T228M	HTR2C_ENST00000371950.3_Silent_p.D196D|HTR2C_ENST00000371951.1_Missense_Mutation_p.T228M	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	228					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ATACCGCTGACGATTATGGTG	0.502000													123	290					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305359	121305359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:121305359T>C	ENST00000334384.3	+	4	870	c.860T>C	c.(859-861)aTg>aCg	p.M287T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGGCCCAATATGACAAGCCAA	0.488000													15	40					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77274320	77274320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77274320G>A	ENST00000388914.3	-	15	2553	c.2401C>T	c.(2401-2403)Cgt>Tgt	p.R801C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	801										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTTTCAAACGGCGTTCCTGA	0.353000													12	36					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918110	39918110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39918110G>A	ENST00000337304.2	+	2	1441	c.559G>A	c.(559-561)Gat>Aat	p.D187N	ATF4_ENST00000396680.1_Missense_Mutation_p.D187N|ATF4_ENST00000404241.2_Missense_Mutation_p.D187N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	187					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)					CAGTGAAGTGGATATCACTGA	0.502000													27	32					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47261018	47261018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:47261018C>T	ENST00000396220.1	-	27	3552	c.3530G>A	c.(3529-3531)cGa>cAa	p.R1177Q	PREX1_ENST00000371941.3_Missense_Mutation_p.R1177Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GACCGAGTCTCGATTGCTGTT	0.587000													13	27					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108391474	108391474	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:108391474G>A	ENST00000361582.3	+	23	2790	c.2560G>A	c.(2560-2562)Gca>Aca	p.A854T	DZIP3_ENST00000463306.1_Missense_Mutation_p.A854T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	854					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAAACTGAACGCAGAAACTAG	0.393000													18	46					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206588569	206588569	+	Missense_Mutation	SNP	C	C	T	rs138033888	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206588569C>T	ENST00000360409.3	+	5	1516	c.725C>T	c.(724-726)aCg>aTg	p.T242M	NRP2_ENST00000357785.5_Missense_Mutation_p.T242M|NRP2_ENST00000540178.1_Missense_Mutation_p.T242M|NRP2_ENST00000540841.1_Missense_Mutation_p.T242M|NRP2_ENST00000412873.2_Missense_Mutation_p.T242M|NRP2_ENST00000355117.4_Missense_Mutation_p.T242M|NRP2_ENST00000357118.4_Missense_Mutation_p.T242M|NRP2_ENST00000272849.3_Missense_Mutation_p.T242M|NRP2_ENST00000417189.1_Missense_Mutation_p.T242M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	242	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGTTCATCGACGGGGATCCTC	0.527000													10	20					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640278	156640278	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156640278C>T	ENST00000368223.3	-	4	3834	c.3702G>A	c.(3700-3702)ggG>ggA	p.G1234G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1234	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGCTGAGGCCCAGGGGCAT	0.637000													52	121					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52477629	52477629	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:52477629C>T	ENST00000216286.5	-	18	3686	c.3687G>A	c.(3685-3687)gtG>gtA	p.V1229V	NID2_ENST00000541773.1_Silent_p.V1128V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1229						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACGGGGATTCACCAGATCTG	0.527000													34	84					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114254240	114254240	+	Silent	SNP	G	G	A	rs56173868	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:114254240G>A	ENST00000357077.4	+	29	3308	c.3255G>A	c.(3253-3255)gcG>gcA	p.A1085A	ANK2_ENST00000264366.6_Silent_p.A1052A|ANK2_ENST00000394537.3_Silent_p.A1085A|ANK2_ENST00000509550.1_Silent_p.A261A|ANK2_ENST00000506722.1_Silent_p.A1076A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1052	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCACTTTGCGGCCCTTCGAG	0.502000													62	37					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGAATTTGTGTAGAACTTTGA	0.473000													3	47					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73064048	73064048	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:73064048C>T	ENST00000263674.3	+	3	3794	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L	ARHGEF17_ENST00000536170.1_3'UTR	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1148	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCTGCTCGTCCAGTCGG	0.657000													19	49					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88474336	88474336	+	Silent	SNP	C	C	T	rs149479181	by1000genomes	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:88474336C>T	ENST00000324166.5	+	2	2093	c.402C>T	c.(400-402)caC>caT	p.H134H	THNSL2_ENST00000402102.1_Silent_p.H134H|THNSL2_ENST00000343544.4_Silent_p.H134H|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.H102H|THNSL2_ENST00000377254.3_Silent_p.H134H|THNSL2_ENST00000358591.2_Silent_p.H134H	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	134					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GGGAGAAGCACGTCACTGTGG	0.512000													14	57					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189692	57189692	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:57189692G>T	ENST00000504228.1	+	7	3442	c.3337G>T	c.(3337-3339)Gcc>Tcc	p.A1113S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1106S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1113S			Q6ZU35	K1211_HUMAN	KIAA1211	1113										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAAAGCAAGCCAGAGAGGC	0.507000													9	14					4.68919e-08	5.28143e-08	1	1	0
PSMD2	5708	broad.mit.edu	37	3	184019655	184019655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:184019655C>A	ENST00000310118.4	+	5	1058	c.500C>A	c.(499-501)gCt>gAt	p.A167D	PSMD2_ENST00000435761.1_Missense_Mutation_p.A8D|PSMD2_ENST00000439383.1_Missense_Mutation_p.A37D|PSMD2_ENST00000459910.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAGAAGTGGCTAAGGAGTGG	0.552000													24	59					3.6726e-16	4.36846e-16	1	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4445797	4445797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4445797C>T	ENST00000254718.4	-	22	3355	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V1017I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1017					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ATATGCTGGACCAGGATGGGG	0.632000													22	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537157	179537157	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:179537157T>A	ENST00000589042.1	-	154	35131	c.34907A>T	c.(34906-34908)aAg>aTg	p.K11636M	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K11262M|TTN_ENST00000342992.6_Missense_Mutation_p.K10335M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11472	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGCTTCCTTTTTAGGCAC	0.353000													65	171					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738640	145738640	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:145738640G>A	ENST00000428558.2	-	15	2465	c.2424C>T	c.(2422-2424)gaC>gaT	p.D808D	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	808	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGGCTGCCCGTCACGCCCGG	0.726000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				17	25					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554045	140554045	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:140554045C>A	ENST00000231137.3	+	1	1803	c.1629C>A	c.(1627-1629)agC>agA	p.S543R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		543	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S543R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGCGAGGCGCTGG	0.701000													4	108					0.00909568	0.00951678	1	1	0
C2orf73	129852	broad.mit.edu	37	2	54570915	54570915	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:54570915C>A	ENST00000398634.2	+	3	335	c.293C>A	c.(292-294)tCt>tAt	p.S98Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.S40Y	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	98										breast(2)	2						CCTTACGACTCTAAGAGCACC	0.438000													10	20					2.17888e-05	2.30106e-05	1	1	0
ZNF410	57862	broad.mit.edu	37	14	74360533	74360533	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:74360533C>T	ENST00000555044.1	+	3	261	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.P23S|ZNF410_ENST00000324593.6_Missense_Mutation_p.P23S|ZNF410_ENST00000540593.1_Missense_Mutation_p.P23S|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TACGTCCATCCCATTGGGACA	0.438000													10	75					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156235606	156235606	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156235606G>A	ENST00000361813.5	-	12	1965	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	607					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCCCATTGACGCAAGGCCTGT	0.572000													54	126					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630542	187630542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:187630542G>A	ENST00000441802.2	-	2	649	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	147	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAGAATAACGGTCTCAAGTC	0.458000										HNSCC(5;0.00058)			98	80					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047737	7047737	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:7047737A>G	ENST00000356654.4	+	7	2848	c.2611A>G	c.(2611-2613)Aca>Gca	p.T871A	ATN1_ENST00000396684.2_Missense_Mutation_p.T871A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	871					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			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						TGCGGTGGCTACAGTGCCCCC	0.617000											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	44					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000319167.8_Silent_p.R640R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000399736.1_Silent_p.R243R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512000													10	66					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34951506	34951506	+	Missense_Mutation	SNP	C	C	T	rs144559068		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:34951506C>T	ENST00000251312.5	+	2	465	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	DHRS11_ENST00000590554.1_Missense_Mutation_p.R6C|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	85						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CTCAGCTATCCGTTCTCAGCA	0.537000													24	78					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8751710	8751710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:8751710G>T	ENST00000534127.1	-	6	1512	c.1127C>A	c.(1126-1128)tCg>tAg	p.S376*	ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	376	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAACTCTTCGATGGCAGCCG	0.612000													58	159					1.39924e-13	1.61341e-13	1	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657910	4657910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:4657910C>T	ENST00000228843.9	+	7	565	c.515C>T	c.(514-516)gCa>gTa	p.A172V	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.A155V|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.A155V|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.A37V|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.A172V	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	172					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAAGAAAAGCAGCATCTAAA	0.423000													31	65					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156870850	156870850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:156870850C>T	ENST00000295926.3	-	4	702	c.584G>A	c.(583-585)tGt>tAt	p.C195Y	CCNL1_ENST00000479052.1_5'UTR|CCNL1_ENST00000461804.1_Missense_Mutation_p.C195Y	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	195					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GACATGAACACAAAATCCCAA	0.358000													30	62					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844467	47844467	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:47844467C>T	ENST00000595464.1	+	2	629	c.411C>T	c.(409-411)ctC>ctT	p.L137L	C5AR2_ENST00000600626.1_Silent_p.L137L|C5AR2_ENST00000257267.2_Silent_p.L137L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		TCCTGGCTCTCGGGCCTGCCT	0.682000													37	115					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096483	129096483	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:129096483G>T	ENST00000249344.2	+	9	1078	c.1038_splice	c.e9+1	p.R346_splice	STRIP2_ENST00000435494.2_Splice_Site_p.R346_splice	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GCTCTCGAAGGGTATGGACTG	0.562000													13	21					2.27111e-07	2.49161e-07	1	1	0
P2RX3	5024	broad.mit.edu	37	11	57114139	57114139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:57114139G>A	ENST00000263314.2	+	2	275	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	81					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTCTGATTACGTGACGCCACC	0.562000													12	22					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148577823	148577823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:148577823A>G	ENST00000506113.1	+	3	675	c.193A>G	c.(193-195)Aac>Gac	p.N65D	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000356541.3_Missense_Mutation_p.N65D|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000508983.1_Missense_Mutation_p.N65D|ABLIM3_ENST00000504238.1_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	65	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCAAGAACCAGGAGTA	0.572000													27	68					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624313	123624313	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:123624313C>A	ENST00000327930.2	-	1	940	c.914G>T	c.(913-915)tGc>tTc	p.C305F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTCTTTGGGCAAGTCATTGC	0.393000													15	78					6.31663e-08	6.99783e-08	1	1	0
PBX4	80714	broad.mit.edu	37	19	19680382	19680382	+	Missense_Mutation	SNP	C	C	A	rs35516996	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:19680382C>A	ENST00000251203.8	-	5	930	c.644G>T	c.(643-645)cGg>cTg	p.R215L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	215							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GCTGAAATTCCGCCGCTTGCG	0.512000													4	252					0.150653	0.151999	1	1	0
SLC8B1	80024	broad.mit.edu	37	12	113770537	113770537	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:113770537G>A	ENST00000552014.1	-	3	662	c.147C>T	c.(145-147)ccC>ccT	p.P49P	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Silent_p.P49P|SLC24A6_ENST00000202831.3_Silent_p.P49P			Q6J4K2	NCKX6_HUMAN		49					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGTCTACCACGGGGGTCTGGT	0.542000													6	20					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			25	37					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160421	70160421	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:70160421G>T	ENST00000335568.5	+	6	1486	c.1484G>T	c.(1483-1485)gGg>gTg	p.G495V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	495					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATGTGATTGGGTTTCTGCTG	0.453000													32	86					7.72975e-29	9.29215e-29	1	1	0
HCN1	348980	broad.mit.edu	37	5	45353264	45353264	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:45353264A>G	ENST00000303230.4	-	5	1372	c.1315T>C	c.(1315-1317)Tac>Cac	p.Y439H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	439						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGCCTTGGTATCTGTGTTCA	0.353000													13	29					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6266754	6266754	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:6266754G>A	ENST00000377939.4	+	2	286	c.159G>A	c.(157-159)gcG>gcA	p.A53A	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	53						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTGGCCGCGCGACCGACGGCC	0.682000													11	34					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400053	13400053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:13400053G>A	ENST00000284110.1	-	2	1479	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26C	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCGAGATGCGCGCGGGGGCC	0.637000													28	127					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642584	85642584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:85642584C>T	ENST00000322366.6	-	46	7939	c.7532G>A	c.(7531-7533)cGc>cAc	p.R2511H	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2528H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2528						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCTAACAGGCGCAGTAAGGT	0.428000													30	76					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25840048	25840048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:25840048C>T	ENST00000381801.5	-	5	1261	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MTMR6_ENST00000540661.1_Missense_Mutation_p.R167Q	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	167	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GCTTGCTATCCGGGGAACATA	0.373000													17	41					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50909674	50909674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:50909674G>A	ENST00000440232.2	+	12	1447	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R465Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R465Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	465					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGCTGCTGCGGGAGTACAAG	0.652000								DNA polymerases (catalytic subunits)					3	10					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724462	71724462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:71724462C>T	ENST00000393695.3	-	15	4418	c.4087G>A	c.(4087-4089)Gct>Act	p.A1363T	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1363T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1363					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGGTGCTTAGCTGGCAGCAGC	0.657000			T	RARA	APL								11	24					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46887486	46887486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:46887486G>T	ENST00000218343.4	+	6	966	c.668G>T	c.(667-669)tGt>tTt	p.C223F	PHF16_ENST00000397189.1_Missense_Mutation_p.C223F	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		223					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGATAAGTGTAACGTCTGT	0.493000													12	26					5.50884e-06	5.87263e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7578508C>A	ENST00000420246.2	-	5	554	c.422G>T	c.(421-423)tGc>tTc	p.C141F	TP53_ENST00000269305.4_Missense_Mutation_p.C141F|TP53_ENST00000445888.2_Missense_Mutation_p.C141F|TP53_ENST00000455263.2_Missense_Mutation_p.C141F|TP53_ENST00000413465.2_Missense_Mutation_p.C141F|TP53_ENST00000359597.4_Missense_Mutation_p.C141F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572000		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)			23	38					4.72057e-08	5.28143e-08	1	1	0
CAPN5	726	broad.mit.edu	37	11	76796060	76796060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:76796060G>A	ENST00000278559.3	+	2	317	c.128G>A	c.(127-129)gGc>gAc	p.G43D	CAPN5_ENST00000456580.2_Missense_Mutation_p.G43D|CAPN5_ENST00000529629.1_Missense_Mutation_p.G43D|CAPN5_ENST00000531028.1_Missense_Mutation_p.G43D	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	43	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACTATAAGGGCACGCCGGGG	0.677000													5	37					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110628	7110628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:7110628C>T	ENST00000306904.5	+	1	464	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	93	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAGAGCAGCCGGCGGGGCCC	0.756000													12	10					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076680	100076680	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:100076680G>A	ENST00000375202.2	+	20	1949	c.597G>A	c.(595-597)atG>atA	p.M199I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.M338I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M196I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.M338I|CCDC180_ENST00000529487.1_Missense_Mutation_p.M199I					coiled-coil domain containing 180																		TGCAGGAAATGGAACCTCTCA	0.522000													13	51					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622194	156622194	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156622194C>T	ENST00000329117.4	+	8	1788	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	BCAN_ENST00000361588.5_Silent_p.S484S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	484					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATGGCCCAGCGAGCTCAGCA	0.602000													7	9					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70517748	70517748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:70517748G>A	ENST00000535149.1	+	7	1467	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R364Q|NONO_ENST00000373856.3_Missense_Mutation_p.R364Q|NONO_ENST00000276079.8_Missense_Mutation_p.R364Q	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAAATGATGCGGCGACAGCAG	0.517000			T	TFE3	papillary renal cancer								10	28					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136633698	136633698	+	Missense_Mutation	SNP	C	C	T	rs148033881		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:136633698C>T	ENST00000371851.1	-	27	2750	c.2425G>A	c.(2425-2427)Ggc>Agc	p.G809S	VAV2_ENST00000406606.3_Missense_Mutation_p.G780S|VAV2_ENST00000371850.3_Missense_Mutation_p.G819S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	819					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACAGCTGTGCCGATGACGCGG	0.622000													11	46					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131696336	131696336	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:131696336C>T	ENST00000372592.3	+	6	1248	c.316_splice	c.e6+1	p.H105_splice	PHYHD1_ENST00000308941.5_Splice_Site_p.H105_splice|PHYHD1_ENST00000421063.2_Splice_Site_p.H105_splice|PHYHD1_ENST00000353176.5_Splice_Site_p.H105_splice	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AAATTGGCCACGGTGAGCAGG	0.507000													21	66					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373361	118373361	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:118373361C>T	ENST00000534358.1	+	27	6777	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2211S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2249S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGTCTTAGGGCCACTGAATTC	0.428000													13	65					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144917992	144917992	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:144917992C>T	ENST00000442628.2	-	17	1574	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	NRBP2_ENST00000327830.5_Missense_Mutation_p.E236K	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	479					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGCGCACCTCGTGGAGGAAG	0.751000													15	9					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202151283	202151283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:202151283C>T	ENST00000358485.4	+	9	1779	c.1583C>T	c.(1582-1584)aCa>aTa	p.T528I	CASP8_ENST00000432109.2_Missense_Mutation_p.T469I|CASP8_ENST00000323492.7_Missense_Mutation_p.T454I|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.T486I|CASP8_ENST00000264274.9_Missense_Mutation_p.T385I	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	469					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTACTTTCACACTAAGAAAA	0.398000										HNSCC(4;0.00038)			9	33					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973170	77973170	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:77973170C>T	ENST00000354212.4	-	9	1586	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E445K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E282K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E445K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E277K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	445	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCAGGCTCGTCTCCACCA	0.478000													17	36					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83785613	83785613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:83785613G>A	ENST00000432794.1	-	11	1499	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	446	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGCCTGCTGAAGTTGGTCT	0.438000													18	54					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889866	150889866	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:150889866G>A	ENST00000370350.3	+	3	319		c.e3-1			NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1							endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCTTCAGGGGTCCCAGC	0.542000													16	42					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27196070	27196070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:27196070G>A	ENST00000242159.3	-	1	228	c.95C>T	c.(94-96)gCt>gTt	p.A32V		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	32					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGAGTTGGGAGCAAAGGAGCA	0.542000													4	127					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532081	16532081	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:16532081G>A	ENST00000270747.3	-	9	1669	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	511	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATAAGGAAGGAGGTAA	0.617000													22	18					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87339194	87339194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:87339194A>G	ENST00000304053.6	+	8	1259	c.776A>G	c.(775-777)gAc>gGc	p.D259G	NTRK2_ENST00000323115.4_Missense_Mutation_p.D259G|NTRK2_ENST00000376214.1_Missense_Mutation_p.D259G|NTRK2_ENST00000376213.1_Missense_Mutation_p.D259G|NTRK2_ENST00000395866.2_Missense_Mutation_p.D103G|NTRK2_ENST00000376208.1_Missense_Mutation_p.D259G|NTRK2_ENST00000359847.3_Missense_Mutation_p.D259G|NTRK2_ENST00000277120.3_Missense_Mutation_p.D259G|NTRK2_ENST00000395882.1_Missense_Mutation_p.D259G	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	259	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCATCCGATGACAGTGGGAAG	0.403000										TSP Lung(25;0.17)			29	130					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69115632	69115632	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:69115632C>T	ENST00000229179.4	+	16	1655	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	NUP107_ENST00000378905.2_Silent_p.V290V|NUP107_ENST00000539906.1_Silent_p.V412V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	441					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTTCCTGTCTGTGACACCT	0.418000													21	39					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	14					0	0	1	0	0
XRCC3	7517	broad.mit.edu	37	14	104174902	104174902	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:104174902C>T	ENST00000553264.1	-	3	946	c.150G>A	c.(148-150)ctG>ctA	p.L50L	XRCC3_ENST00000554913.1_Silent_p.L50L|XRCC3_ENST00000555055.1_Silent_p.L50L|XRCC3_ENST00000445556.1_Silent_p.L50L|XRCC3_ENST00000352127.7_Silent_p.L50L|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	50					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGCCGTTCTCAGCAAGTGCC	0.547000								Direct reversal of damage;Homologous recombination					17	25					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4799584	4799584	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4799584C>A	ENST00000355280.6	+	29	3758	c.3562C>A	c.(3562-3564)Cat>Aat	p.H1188N	MINK1_ENST00000453408.3_Missense_Mutation_p.H1168N|MINK1_ENST00000347992.7_Missense_Mutation_p.H1159N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1188	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGCTGGCTTCCATGCTGTGGA	0.632000											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	96					5.04308e-16	5.93612e-16	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368707	18368707	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:18368707C>T	ENST00000392413.3	-	4	3602	c.3387G>A	c.(3385-3387)gcG>gcA	p.A1129A	KIAA1683_ENST00000600328.2_Silent_p.A942A|KIAA1683_ENST00000600359.2_Silent_p.A896A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1129	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTGCGACGCGCCAGGTAGC	0.672000													32	81					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115822	5115822	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:5115822C>T	ENST00000315997.5	-	1	289	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.E30K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E30K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E68K|C16orf89_ENST00000422873.1_Missense_Mutation_p.E68K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	30						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCTTTACTTTCAGCAGTGTCC	0.602000													10	35					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29585137	29585137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:29585137G>A	ENST00000356870.3	+	3	436	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	PTPRU_ENST00000345512.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R109Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R109Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R109Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	109	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.R109L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGTACAGCCGGGACGGGCAC	0.627000													148	96					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563925	55563925	+	Silent	SNP	C	C	T	rs141238594		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:55563925C>T	ENST00000335605.1	+	1	894	c.894C>T	c.(892-894)gaC>gaT	p.D298D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGAATAAAGACGTGAAGGATG	0.413000													12	39					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290593	132290593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:132290593G>A	ENST00000295171.6	+	7	1096	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E254K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	320										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGACCAAGAAGCCACGCA	0.617000													21	103					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40559107	40559107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr21:40559107G>A	ENST00000333229.2	-	42	7135	c.6808C>T	c.(6808-6810)Cga>Tga	p.R2270*		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAAGCATTTCGATGGGGCAGT	0.338000													13	23					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:42814088C>G	ENST00000499536.2	+	1	1163	c.352C>G	c.(352-354)Cca>Gca	p.P118A	PRR19_ENST00000341747.3_Missense_Mutation_p.P118A|PRR19_ENST00000598490.1_Missense_Mutation_p.P118A			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672000													26	42					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	30					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557023	214557023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:214557023delG	ENST00000366956.5	-	13	2369	c.2175delC	c.(2173-2175)ccfs	p.P725fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	725					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCGGAGCATGGGGATCTGGG	0.612													19	51	---	---	---	---					
PTPRG	5793	broad.mit.edu	37	3	62258702	62258702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:62258702delC	ENST00000474889.1	+	22	3641	c.3264delC	c.(3262-3264)gtfs	p.V1088fs	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Frame_Shift_Del_p.V1059fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1088	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTTAACGTCCTGGGATTCC	0.478													7	32	---	---	---	---					
CYP11B1	1584	broad.mit.edu	37	8	143960853	143960854	+	Frame_Shift_Ins	INS	-	-	TGCA			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:143960853_143960854insTGCA	ENST00000377675.3	-	2	288_289	c.282_283insTGCA	c.(280-285)gccacgfs	p.T95fs	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCAGCACGTGCTGCACTCCTTC	0.634									Familial Hyperaldosteronism type I				27	38	---	---	---	---					
SPAG8	26206	broad.mit.edu	37	9	35811864	35811884	+	In_Frame_Del	DEL	GCTGCAGCAGCTGATGCAGCC	GCTGCAGCAGCTGATGCAGCC	-	rs143976174	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:35811864_35811884delGCTGCAGCAGCTGATGCAGCC	ENST00000340291.2	-	2	283_303	c.159_179delGGCTGCATCAGCTGCTGCAGC	c.(157-180)gct>gc	p.AAASAAAA53del	SPAG8_ENST00000396638.2_In_Frame_Del_p.AAASAAAA53del|SPAG8_ENST00000484764.1_In_Frame_Del_p.AAASAAAA51del	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	53	Ala-rich.					acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			Ggctgcagtagctgcagcagctgatgcagccgctgcagctg	0.602													18	59	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													23	82	---	---	---	---					
HMHA1	23526	broad.mit.edu	37	19	1078011	1078013	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:1078011_1078013delGCG	ENST00000313093.2	+	11	1572_1574	c.1341_1343delGCG	c.(1339-1344)aag>aa	p.KR447del	HMHA1_ENST00000539243.2_In_Frame_Del_p.KR463del|HMHA1_ENST00000543365.1_In_Frame_Del_p.KR330del|HMHA1_ENST00000590577.1_In_Frame_Del_p.KR82del|HMHA1_ENST00000590214.1_In_Frame_Del_p.KR474del|HMHA1_ENST00000586866.1_In_Frame_Del_p.KR451del|HMHA1_ENST00000536472.1_In_Frame_Del_p.KR287del	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	447					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCCTGGACAAGCGGCGGCGGCTG	0.665													2	4	---	---	---	---					
NFATC2	4773	broad.mit.edu	37	20	50139652	50139652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:50139652delG	ENST00000371564.3	-	2	1347	c.1128delC	c.(1126-1128)ccfs	p.P376fs	NFATC2_ENST00000414705.1_Frame_Shift_Del_p.P356fs|NFATC2_ENST00000396009.3_Frame_Shift_Del_p.P376fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	376					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCGGCTTGGGCCAAGTGG	0.562													55	154	---	---	---	---					
GTPBP1	9567	broad.mit.edu	37	22	39112081	39112081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39112081delC	ENST00000216044.5	+	3	707	c.474delC	c.(472-474)ttfs	p.F158fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	158					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACAATGACTTCCTGGAGGTCA	0.582													4	7	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384562	+	RNA	DEL	AAA	AAA	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:42384560_42384562delAAA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAAAA	0.325													2	4	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53241082	53241083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:53241082_53241083insA	ENST00000452825.3	-	7	1459_1460	c.927_928insT	c.(925-930)tgagcgfs	p.*A309fs	KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.*A375fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.*A335fs|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.*A376fs|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.*A376fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGGGCCGCTTACACTCCTGAA	0.510			"""N, F, S"""		clear cell renal carcinoma								9	18	---	---	---	---