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
IKZF4	64375	broad.mit.edu	37	12	56427056	56427056	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:56427056G>A	ENST00000262032.5	+	11	1315	c.948G>A	c.(946-948)ctG>ctA	p.L316L	IKZF4_ENST00000547167.1_Silent_p.L316L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.L214L|IKZF4_ENST00000547791.1_Silent_p.L271L			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	316					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGATCGTCTGGCCAATAGCC	0.502000													34	55					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2209864	2209864	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:2209864C>T	ENST00000511885.2	-	5	917	c.564G>A	c.(562-564)ggG>ggA	p.G188G	POLN_ENST00000382865.1_Silent_p.G188G|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	188					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCCTGAGTTCCCAGAATTTA	0.378000								DNA polymerases (catalytic subunits)					10	37					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802570	24802570	+	Silent	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:24802570C>A	ENST00000395799.3	+	6	2736	c.2607C>A	c.(2605-2607)gcC>gcA	p.A869A	TNRC6A_ENST00000315183.7_Silent_p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463000													18	26					1.67942e-08	1.75663e-08	1	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													3	26					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187538223	187538223	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:187538223G>C	ENST00000441802.2	-	11	9220	c.9011C>G	c.(9010-9012)tCa>tGa	p.S3004*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3004	Cadherin 27.				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						CGCTTTTGATGAGAAGGTGCC	0.393000										HNSCC(5;0.00058)			19	42					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155275	155275	+	RNA	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:155275C>G	ENST00000510175.1	+	0	710							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTTAACCAATCCTCAACCCTT	0.353000													12	30					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190746	72190746	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:72190746T>C	ENST00000356056.5	-	25	4570	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	MYO9A_ENST00000444904.1_Silent_p.K1347K|MYO9A_ENST00000564571.1_Silent_p.K1366K|MYO9A_ENST00000566885.1_Silent_p.K986K|MYO9A_ENST00000424560.1_Silent_p.K1366K|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1366	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGAATCAAATTTTGGACTGC	0.443000													32	33					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758896	54758896	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:54758896C>G	ENST00000450632.1	-	6	1007	c.930G>C	c.(928-930)ctG>ctC	p.L310L	LILRB5_ENST00000449561.2_Silent_p.L319L|LILRB5_ENST00000316219.5_Silent_p.L319L|LILRB5_ENST00000345866.6_Silent_p.L219L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	319	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCAGGGATCAGTCCTGGAG	0.597000													3	27					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192413	66192413	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:66192413G>C	ENST00000311034.2	+	7	2228	c.2052G>C	c.(2050-2052)ctG>ctC	p.L684L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	684					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCTCAGCCTGGACCTGAAAC	0.602000													47	106					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987498	123987498	+	Missense_Mutation	SNP	G	G	A	rs114249776	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:123987498G>A	ENST00000369005.1	+	14	8211	c.7871G>A	c.(7870-7872)gGc>gAc	p.G2624D	TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000368999.1_Missense_Mutation_p.G714D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2624						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATGGGCTTGGGCACCCCTTCA	0.572000													37	57					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765955	66765955	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:66765955G>C	ENST00000374690.3	+	1	1491	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	AR_ENST00000396044.3_Missense_Mutation_p.E323Q|AR_ENST00000504326.1_Missense_Mutation_p.E323Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	321	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GCTAGAAGGCGAGAGCCTAGG	0.572000									Androgen Insensitivity Syndrome				37	9					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226485424	226485424	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:226485424T>G	ENST00000328205.5	-	3	748	c.203A>C	c.(202-204)gAa>gCa	p.E68A	LIN9_ENST00000366801.1_Missense_Mutation_p.E52A|LIN9_ENST00000481685.1_Missense_Mutation_p.E68A	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	52	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCTTACCATTTCCACAGCAGA	0.333000													21	87					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27592363	27592363	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:27592363C>G	ENST00000493344.2	-	2	504	c.192G>C	c.(190-192)aaG>aaC	p.K64N	EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N|EIF2B4_ENST00000347454.4_Missense_Mutation_p.K43N			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	43					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	p.K64N(1)|p.K43N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTGTTTCTTTTCCTTCC	0.498000													12	78					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	518437	518437	+	Silent	SNP	G	G	A	rs148545889		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:518437G>A	ENST00000280886.6	-	3	297	c.210C>T	c.(208-210)tcC>tcT	p.S70S	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	70						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCGAGAGGCGGAGGAAGGAG	0.582000													37	63					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46487694	46487694	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:46487694A>C	ENST00000361297.2	+	12	1646	c.1363A>C	c.(1363-1365)Aaa>Caa	p.K455Q	MAST2_ENST00000372008.1_Missense_Mutation_p.K340Q|MAST2_ENST00000372009.2_Missense_Mutation_p.K385Q	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	455					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGGATTAAATGTGACAT	0.552000													77	258					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56480344	56480344	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:56480344C>T	ENST00000370765.6	-	24	8028	c.7921G>A	c.(7921-7923)Gga>Aga	p.G2641R	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAGAAATTCCTGTCATCAGG	0.388000													16	38					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485171	56485171	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:56485171T>A	ENST00000291971.3	+	7	2759	c.2688T>A	c.(2686-2688)tgT>tgA	p.C896*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896						cytoplasm	ATP binding	p.C896*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTGAGATGTCCTCTGCAGA	0.473000													40	43					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841549	20841549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:20841549G>A	ENST00000262715.5	-	47	6734	c.6694C>T	c.(6694-6696)Cac>Tac	p.H2232Y	TEP1_ENST00000545983.1_Missense_Mutation_p.H570Y|TEP1_ENST00000556935.1_Missense_Mutation_p.H2124Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2232					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGGGTGTGGGTTTGGCAC	0.582000													34	36					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31822284	31822284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:31822284G>C	ENST00000419022.1	-	8	988	c.520C>G	c.(520-522)Cct>Gct	p.P174A	PAX6_ENST00000241001.8_Missense_Mutation_p.P160A|PAX6_ENST00000379123.5_Missense_Mutation_p.P160A|PAX6_ENST00000379115.4_Missense_Mutation_p.P174A|PAX6_ENST00000379107.2_Missense_Mutation_p.P174A|PAX6_ENST00000379132.3_Missense_Mutation_p.P160A|PAX6_ENST00000379111.2_Missense_Mutation_p.P160A|PAX6_ENST00000379129.2_Missense_Mutation_p.P174A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	160	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TACCAACCAGGGCGGGTGCCC	0.567000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				43	76					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526391	84526391	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:84526391A>G	ENST00000360700.4	+	10	2867	c.1981A>G	c.(1981-1983)Aag>Gag	p.K661E	ZNF711_ENST00000395402.1_Missense_Mutation_p.K623E|ZNF711_ENST00000276123.3_Missense_Mutation_p.K615E|ZNF711_ENST00000373165.3_Missense_Mutation_p.K615E|ZNF711_ENST00000542798.1_Missense_Mutation_p.K457E			Q9Y462	ZN711_HUMAN	zinc finger protein 711	615					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCCATACTAAGGATTTTCC	0.408000													14	4					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916692	72916692	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:72916692C>A	ENST00000319642.1	-	2	421	c.239G>T	c.(238-240)tGc>tTc	p.C80F		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	80					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GAAGGACAGGCAGTGCAAGTG	0.592000													18	74					2.35188e-11	2.50317e-11	1	1	0
MTFR2	113115	broad.mit.edu	37	6	136560842	136560842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:136560842G>A	ENST00000420702.1	-	6	1020	c.631C>T	c.(631-633)Cct>Tct	p.P211S	MTFR2_ENST00000451457.2_Missense_Mutation_p.P211S	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		agtggtggaggaggaggagga	0.512000													13	36					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150778971	150778971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:150778971G>A	ENST00000392818.3	-	3	763	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMUB1_ENST00000476627.1_Missense_Mutation_p.R136W|TMUB1_ENST00000462940.1_Missense_Mutation_p.R136W|TMUB1_ENST00000482202.1_Missense_Mutation_p.R136W|TMUB1_ENST00000297533.4_Missense_Mutation_p.R136W	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	136	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGTTCCCGGCCGGGAAAC	0.647000													4	2					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570329	136570329	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:136570329G>A	ENST00000264162.2	-	7	1915	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	635	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCACAAAGACGGGGTGTG	0.582000													12	93					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053606	73053606	+	Silent	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73053606G>T	ENST00000335350.6	+	13	2507	c.2091G>T	c.(2089-2091)ctG>ctT	p.L697L	UNC5B_ENST00000373192.4_Silent_p.L686L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	697					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCTCCAGCTGGCCGTCTTCG	0.657000													6	19					0.248553	0.248553	1	1	0
CR1L	1379	broad.mit.edu	37	1	207857216	207857216	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:207857216G>C	ENST00000508064.2	+	4	437		c.e4-1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGCCTCTAGATACCGACTC	0.378000													12	22					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13978077	13978077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:13978077A>G	ENST00000488300.1	+	3	1250	c.727A>G	c.(727-729)Atg>Gtg	p.M243V	RNF182_ENST00000537663.1_Missense_Mutation_p.M243V|RNF182_ENST00000537388.1_Missense_Mutation_p.M243V|RNF182_ENST00000544682.1_Missense_Mutation_p.M243V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	243						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TCTAGACTGTATGGCACCTCC	0.388000													12	158					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51204924	51204924	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:51204924T>C	ENST00000245441.5	-	27	5899	c.5709A>G	c.(5707-5709)caA>caG	p.Q1903Q	NIN_ENST00000530997.2_Silent_p.Q1903Q|NIN_ENST00000382041.3_Silent_p.Q1903Q|NIN_ENST00000453196.1_Silent_p.Q1903Q|NIN_ENST00000382043.4_Silent_p.Q1190Q|NIN_ENST00000324330.9_Silent_p.Q1903Q|NIN_ENST00000389868.3_Silent_p.Q1190Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1903					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAATTTTTCTTGCTCTGTGG	0.408000			T	PDGFRB	MPD								48	51					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110448567	110448567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:110448567A>G	ENST00000265175.5	+	18	3110	c.3055A>G	c.(3055-3057)Atc>Gtc	p.I1019V	SEC24B_ENST00000504968.2_Missense_Mutation_p.I1049V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I984V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1019					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAAGCTGCCATCTGCCTTCT	0.418000													21	26					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21272519	21272519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:21272519C>G	ENST00000354336.3	+	1	806	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	99	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CCACCCTCATCGAGCCTGCGC	0.612000													20	12					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823729	97823729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:97823729G>A	ENST00000297293.5	+	11	4245	c.3952G>A	c.(3952-3954)Gtg>Atg	p.V1318M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1318					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGAGCACCCCGTGCCCATCAT	0.637000													24	327					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171753	104171753	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:104171753A>G	ENST00000374861.3	+	3	1945	c.1661A>G	c.(1660-1662)tAt>tGt	p.Y554C	ZNF189_ENST00000259395.4_Missense_Mutation_p.Y526C|ZNF189_ENST00000339664.2_Missense_Mutation_p.Y568C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	568					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGAAACCTTATAAGTGTGAG	0.433000													38	32					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012302	46012302	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr21:46012302G>A	ENST00000400368.1	-	1	84	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	22						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGAACCAGGAAGGCAGACG	0.677000													3	46					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900762	3900762	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3900762T>C	ENST00000262367.5	-	2	1143	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	CREBBP_ENST00000382070.3_Missense_Mutation_p.M112V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	112					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGCTGGCCATGTTAGCACTG	0.637000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	45					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93482923	93482923	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:93482923C>G	ENST00000394196.4	+	7	1735	c.667C>G	c.(667-669)Cgt>Ggt	p.R223G	CHD2_ENST00000420239.2_Missense_Mutation_p.R223G|CHD2_ENST00000557381.1_Missense_Mutation_p.R223G|CHD2_ENST00000536619.1_Missense_Mutation_p.R236G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGCAGACTCGTCGAAGAGC	0.428000													30	48					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422460	53422460	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:53422460C>G	ENST00000377942.3	-	1	315	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E38Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	38	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCATCCTCCTCGAAGGTGCTG	0.597000													48	48					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457210	25457210	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:25457210A>G	ENST00000264709.3	-	23	3014	c.2677T>C	c.(2677-2679)Tgg>Cgg	p.W893R	DNMT3A_ENST00000402667.1_Missense_Mutation_p.W670R|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W704R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W893R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACGCTCCATGACCGGCCC	0.557000			"""Mis, F, N, S"""		AML								25	31					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757780	3757780	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:3757780C>A	ENST00000440314.2	-	11	1520		c.e11-1		EFCAB4B_ENST00000252322.1_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTACACTTCCCTGAGGAGGAG	0.627000													7	19					0.00448238	0.0045575	1	1	0
KCNRG	283518	broad.mit.edu	37	13	50594352	50594352	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:50594352A>T	ENST00000360473.4	+	3	919	c.679A>T	c.(679-681)Atg>Ttg	p.M227L	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.Y194F	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	0						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TGTCCTAGGTATGTTTCTATA	0.353000													6	15					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50357788	50357788	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:50357788C>T	ENST00000391842.1	+	2	467	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.L99L|PTOV1_ENST00000601638.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000221557.9_Silent_p.L67L	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672000													22	51					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96969791	96969791	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:96969791C>A	ENST00000369278.4	+	1	108	c.42C>A	c.(40-42)gaC>gaA	p.D14E	UFL1_ENST00000461673.1_3'UTR	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	14	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TGGCGGCCGACTTCCAGCGGG	0.662000													4	15					0.00909568	0.00914593	1	1	0
CDH23	64072	broad.mit.edu	37	10	73551006	73551006	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73551006T>C	ENST00000224721.6	+	46	6187	c.6182T>C	c.(6181-6183)cTc>cCc	p.L2061P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2056	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCACCTGCTCATCACCATC	0.602000													3	26					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577098	7577098	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7577098T>A	ENST00000420246.2	-	8	972	c.840A>T	c.(838-840)agA>agT	p.R280S	TP53_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TGCGCCGGTCTCTCCCAGGAC	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)			13	19					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135521286	135521286	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:135521286C>G	ENST00000341911.5	+	12	1972	c.1773C>G	c.(1771-1773)ttC>ttG	p.F591L	MYB_ENST00000534044.1_Missense_Mutation_p.F470L|MYB_ENST00000316528.8_Missense_Mutation_p.F470L|MYB_ENST00000525369.1_Missense_Mutation_p.F385L|MYB_ENST00000527615.1_Missense_Mutation_p.F470L|MYB_ENST00000533624.1_Missense_Mutation_p.F435L|MYB_ENST00000528774.1_Missense_Mutation_p.F588L|MYB_ENST00000442647.2_Missense_Mutation_p.F467L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.F575L|MYB_ENST00000367814.4_Missense_Mutation_p.F470L	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	509					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTACACCATTCAAACATGCAC	0.363000			T	NFIB	adenoid cystic carcinoma								35	82					0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33059037	33059037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:33059037G>C	ENST00000373510.4	+	3	734	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.E169Q|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CCTAAGCCCAGAGCAAGGAAC	0.428000													22	55					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7920950	7920950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:7920950A>T	ENST00000378789.3	-	1	171	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	40	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCTGCAATATTATCAGCCA	0.308000													11	20					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395078	107395078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:107395078C>T	ENST00000008527.5	-	5	1531	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	222	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AAATGCCTTTCCAAACGAGTA	0.323000													4	32					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13767612	13767612	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:13767612A>T	ENST00000380567.1	+	10	1347	c.475A>T	c.(475-477)Aga>Tga	p.R159*	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Nonsense_Mutation_p.R299*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R299*|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R299*			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299000													31	13					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197435	8197435	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:8197435A>G	ENST00000162391.3	+	6	1843	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.Y233C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	233					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCTCCCCTCTATAACACCAAC	0.507000													35	127					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12878892	12878892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:12878892C>T	ENST00000264827.5	-	12	1320	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E384K	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	384	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCCATTTCTCGGCCTTCATG	0.597000													48	94					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3415846	3415846	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:3415846A>G	ENST00000336727.3	+	5	2972	c.2068A>G	c.(2068-2070)Agc>Ggc	p.S690G	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S690G|RGS12_ENST00000344733.5_Missense_Mutation_p.S690G|RGS12_ENST00000338806.4_Missense_Mutation_p.S42G|RGS12_ENST00000306648.7_Missense_Mutation_p.S88G|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.S32G	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	690						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACAGCCTGAGCAGCAATGC	0.697000													3	5					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077118	65077118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077118T>A	ENST00000380985.5	+	6	870	c.692T>A	c.(691-693)tTa>tAa	p.L231*	NLN_ENST00000502464.1_Nonsense_Mutation_p.L127*	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATTGACAGTTTAGAAAAGACA	0.338000													14	9					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55062944	55062944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:55062944G>C	ENST00000371316.3	+	7	702	c.620G>C	c.(619-621)aGa>aCa	p.R207T	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R207T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	207	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTGGAGAGCAGAGACTGTAGC	0.642000													42	46					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070781	70070781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:70070781C>T	ENST00000370598.1	+	29	4437	c.3616C>T	c.(3616-3618)Cct>Tct	p.P1206S	BAI3_ENST00000546190.1_Missense_Mutation_p.P170S|BAI3_ENST00000238918.8_Missense_Mutation_p.P412S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1206					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGATATTGGTCCTTGCCGAGC	0.358000													9	58					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197562650	197562650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:197562650C>T	ENST00000438796.2	+	9	1252	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	LRCH3_ENST00000425562.2_Missense_Mutation_p.S403L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S403L|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	403						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGCCTTAGTTCACAGTTTATG	0.458000													34	58					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077119	65077119	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077119A>T	ENST00000380985.5	+	6	871	c.693A>T	c.(691-693)ttA>ttT	p.L231F	NLN_ENST00000502464.1_Missense_Mutation_p.L127F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTGACAGTTTAGAAAAGACAG	0.338000													14	9					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756746	32756746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:32756746G>A	ENST00000249007.4	+	2	1086	c.881G>A	c.(880-882)gGt>gAt	p.G294D	RFPL3_ENST00000382088.3_Missense_Mutation_p.G265D|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.P98S|RFPL3S_ENST00000382084.4_Missense_Mutation_p.P69S|RFPL3_ENST00000397468.1_Missense_Mutation_p.G265D	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	294	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGTGATCAAGGTGTCTTGAGC	0.507000													17	78					0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28598379	28598379	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:28598379G>C	ENST00000261714.6	-	10	1230	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	BLMH_ENST00000394819.3_Silent_p.V265V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	352					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TCTTCAAGGAGACACCAAACA	0.428000													17	20					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96244818	96244818	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:96244818C>G	ENST00000437043.3	+	14	2877	c.2166C>G	c.(2164-2166)ctC>ctG	p.L722L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L677L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	722					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L722L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTGAAAACCTCAAGGTTTGTG	0.388000													21	21					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036107	48036107	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:48036107G>A	ENST00000543600.1	-	1	273	c.234C>T	c.(232-234)gaC>gaT	p.D78D	PTCHD4_ENST00000339488.4_Silent_p.D95D			Q6ZW05	CF138_HUMAN	patched domain containing 4	95						integral to membrane	hedgehog receptor activity										TTTTGGACTGGTCCAGGGGGA	0.632000													30	71					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149831	42149831	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42149831G>C	ENST00000320955.6	-	50	8531	c.8304C>G	c.(8302-8304)ctC>ctG	p.L2768L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2768					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTCACCCCAGAGTGCTCCCA	0.647000													5	10					0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413000													32	56					0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62591660	62591660	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62591660C>G	ENST00000294179.3	-	10	1039	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	STX5_ENST00000541317.1_Missense_Mutation_p.E200Q|STX5_ENST00000377897.4_Missense_Mutation_p.E296Q|STX5_ENST00000394690.1_Missense_Mutation_p.E242Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	296	t-SNARE coiled-coil homology.				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCTCCTGTTCCTTAACCATG	0.507000													24	102					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38246453	38246453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:38246453C>G	ENST00000302609.7	-	3	249	c.37G>C	c.(37-39)Gtt>Ctt	p.V13L	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCACAATAACATCCTTTAAT	0.403000													6	71					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100211533	100211533	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:100211533A>T	ENST00000338042.6	+	4	583	c.264A>T	c.(262-264)ttA>ttT	p.L88F	MEF2A_ENST00000449277.2_Missense_Mutation_p.L20F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.L20F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L88F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L88F|MEF2A_ENST00000557785.1_Missense_Mutation_p.L88F			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	88					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCAGACTTTAAGAAAGAAAG	0.378000													12	71					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615004	73615004	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:73615004C>T	ENST00000261917.3	-	8	4423	c.3430G>A	c.(3430-3432)Gcc>Acc	p.A1144T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1144					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCGGGGATGGCACCATAGGGC	0.677000													8	15					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405088	89405088	+	RNA	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:89405088C>T	ENST00000532352.1	+	0	1028							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACCGGGACTCATGGGTGTTT	0.408000													23	29					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217438	51217438	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51217438C>T	ENST00000293441.1	-	4	659		c.e4+1		SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCCTCCCTACCTCCCGAATC	0.597000													18	22					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140021368	140021368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:140021368C>T	ENST00000511410.1	+	3	392	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TMCO6_ENST00000252100.6_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000394671.3_Intron			Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	0					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597000													17	25					0	0	1	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778027	27778027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:27778027C>G	ENST00000369163.2	+	1	186	c.176C>G	c.(175-177)aCc>aGc	p.T59S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	59					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CAGAAGTCCACCGAGCTGCTG	0.627000													15	50					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140401	104140401	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:104140401C>T	ENST00000369983.3	+	38	5388	c.5128C>T	c.(5128-5130)Cct>Tct	p.P1710S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1710					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGTTTTCTCCCTCACCTACG	0.572000													130	213					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197863748	197863748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:197863748C>T	ENST00000328737.2	-	24	2549	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.D825N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D842N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D825N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	850							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACATGATCAGCAAATGCT	0.433000													19	16					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532589	92532589	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:92532589G>T	ENST00000298047.6	+	9	6427	c.6410G>T	c.(6409-6411)gGg>gTg	p.G2137V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2137V|FAT3_ENST00000525166.1_Missense_Mutation_p.G1987V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2137	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAATTCAGGGAATGTTATT	0.418000										TCGA Ovarian(4;0.039)			7	9					5.68852e-11	6.01925e-11	1	1	0
AAK1	22848	broad.mit.edu	37	2	69759275	69759275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:69759275T>A	ENST00000409085.4	-	6	930	c.554A>T	c.(553-555)cAt>cTt	p.H185L	AAK1_ENST00000406297.3_Missense_Mutation_p.H185L|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.H185L	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	185	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCTCGGTCATGCAAGAGGAT	0.418000													7	51					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762944	141762944	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:141762944G>A	ENST00000389484.3	-	15	3434	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	821	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGATTATCGGCACAAGCAC	0.443000										TSP Lung(27;0.18)			12	33					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64497902	64497902	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:64497902A>T	ENST00000358025.3	+	45	7278	c.7048A>T	c.(7048-7050)Aag>Tag	p.K2350*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K2350*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2350					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCATCTGCTAAGCAGGAGAT	0.393000													130	71					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172473109	172473109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:172473109G>A	ENST00000417960.1	+	4	629	c.152G>A	c.(151-153)aGa>aAa	p.R51K	ECT2_ENST00000392692.3_Missense_Mutation_p.R52K|ECT2_ENST00000232458.5_Missense_Mutation_p.R52K|ECT2_ENST00000427830.1_Missense_Mutation_p.R52K|ECT2_ENST00000441497.2_Missense_Mutation_p.R52K|ECT2_ENST00000540509.1_Missense_Mutation_p.R52K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	52					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTGAAACAAGAGTGATATTG	0.318000													10	42					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51845919	51845919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:51845919C>T	ENST00000453097.2	+	4	506	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q124*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q44*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	97					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACACCATCTCAGCGTGTTCA	0.428000													43	84					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46719097	46719097	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:46719097G>A	ENST00000454366.1	+	8	1655	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	462					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTGACTCCCCGGACAGCTCAA	0.567000													4	127					0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560822	62560822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:62560822C>G	ENST00000360864.4	+	3	418	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	DNAJC5_ENST00000369911.2_Missense_Mutation_p.Q89E	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	89					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTGGCCGAGCAGTTTGGGGA	0.592000													45	86					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20142948	20142948	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:20142948A>T	ENST00000263754.4	+	5	1294	c.839A>T	c.(838-840)gAg>gTg	p.E280V		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	280					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGATACAAAGAGAACTACACA	0.418000													22	33					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077120	65077120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077120G>A	ENST00000380985.5	+	6	872	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NLN_ENST00000502464.1_Missense_Mutation_p.E128K	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	232					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGACAGTTTAGAAAAGACAGA	0.338000													14	9					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521470	62521470	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62521470C>G	ENST00000394807.3	-	1	190	c.65G>C	c.(64-66)aGa>aCa	p.R22T		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGTAGAGATCTTTTTCGCTC	0.622000													10	65					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938943	14938943	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:14938943G>C	ENST00000322301.3	-	2	198	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.V37V			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CGAGCACAGTGACCAGGTACA	0.493000													19	38					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117399281	117399281	+	Silent	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:117399281C>G	ENST00000374049.4	+	7	1037	c.600C>G	c.(598-600)gtC>gtG	p.V200V	C9orf91_ENST00000288502.4_Silent_p.V199V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	199						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TTTGGTTTGTCTACTTCGACC	0.468000													33	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	23					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61957463	61957463	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:61957463G>C	ENST00000422202.1	+	29	3507	c.3439G>C	c.(3439-3441)Gag>Cag	p.E1147Q	COL20A1_ENST00000358894.6_Missense_Mutation_p.E1140Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147Q			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1140	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGAGGCCTGGAGGGAACTGC	0.662000													32	61					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	639244	639244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:639244C>T	ENST00000264935.5	+	8	1337	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	416					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGGAAGAAGACGGCCCTGCAG	0.632000													17	132					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595898	52595898	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:52595898G>A	ENST00000395489.2	-	8	915	c.519C>T	c.(517-519)ggC>ggT	p.G173G	A1CF_ENST00000373997.3_Silent_p.G180G|A1CF_ENST00000373993.1_Silent_p.G180G|A1CF_ENST00000374001.1_Silent_p.G180G|A1CF_ENST00000282641.2_Silent_p.G180G|A1CF_ENST00000373995.3_Silent_p.G188G|A1CF_ENST00000395495.1_Silent_p.G180G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	180	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CGAAGGCAAAGCCTCGGTTTT	0.473000													20	43					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963075	128963075	+	Silent	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:128963075T>C	ENST00000357166.6	-	4	601	c.210A>G	c.(208-210)gtA>gtG	p.V70V	ZDHHC9_ENST00000371064.3_Silent_p.V70V	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	70						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGGCAGCAAATACAGGGATGG	0.498000													55	16					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663828	153663828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:153663828C>G	ENST00000369762.2	+	9	1241	c.1180C>G	c.(1180-1182)Cag>Gag	p.Q394E		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	394					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTCCCTGGCAGATGATGCT	0.617000													8	48					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105784	14105784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:14105784G>C	ENST00000235372.7	+	8	2350	c.1494G>C	c.(1492-1494)atG>atC	p.M498I	PRDM2_ENST00000343137.4_Missense_Mutation_p.M297I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M297I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.M498I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	498						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATACTAATATGAGACGGCATC	0.448000													15	34					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628875	51628875	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51628875T>A	ENST00000440804.3	+	2	510	c.443T>A	c.(442-444)aTc>aAc	p.I148N	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.I148N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	148	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGCCCAACATCCTCATCCCA	0.632000													66	94					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100962873	100962873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:100962873G>A	ENST00000193391.7	-	13	2489	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	768					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGCATATCTGGCTTTACCATT	0.403000													31	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089884	9089884	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:9089884G>A	ENST00000397910.4	-	1	2134	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	644	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACCGTTCGTGGCCAGAGT	0.562000													27	94					0	0	1	0	0
SOCS2	8835	broad.mit.edu	37	12	93968681	93968681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:93968681C>A	ENST00000340600.2	+	3	921	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	SOCS2_ENST00000549122.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.S108Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	108	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AGATTGGACTCTATCATATGT	0.398000													13	37					2.27111e-07	2.34853e-07	1	1	0
YTHDF2	51441	broad.mit.edu	37	1	29069845	29069845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069845C>T	ENST00000373812.3	+	4	1425	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	355					humoral immune response			p.R355W(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCACCTCGGAACCGTGG	0.582000													41	103					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3819250	3819250	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3819250C>T	ENST00000262367.5	-	15	3794	c.2985G>A	c.(2983-2985)ctG>ctA	p.L995L	CREBBP_ENST00000382070.3_Silent_p.L957L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	995					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTCATTTCCAGCACAGGTA	0.602000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	66					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77576214	77576214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:77576214G>A	ENST00000361786.2	+	3	513	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	66										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CATGCTGAGCGCCTTAGGCTG	0.547000													41	74					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98503829	98503829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:98503829G>C	ENST00000359863.4	+	13	1275	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	TRRAP_ENST00000446306.3_Missense_Mutation_p.D356H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D356H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	356					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGCTGTTTGATGAATCCAT	0.388000													12	135					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35230525	35230525	+	Splice_Site	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:35230525A>T	ENST00000392232.3	+	5	528	c.361_splice	c.e5+1	p.P120_splice	ZNF181_ENST00000492450.1_Splice_Site_p.P76_splice|ZNF181_ENST00000459757.1_Splice_Site_p.P75_splice			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTATGATTCCAGGTGAGTCAT	0.398000													3	55					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74538942	74538942	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74538942G>C	ENST00000553458.1	-	4	410	c.312C>G	c.(310-312)gtC>gtG	p.V104V	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Intron|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	104						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AGCGGAGCAAGACCTGCTGGC	0.463000													28	26					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10444839	10444839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10444839C>G	ENST00000589261.1	-	6	1739	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	ICAM3_ENST00000160262.5_Missense_Mutation_p.E480Q			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	480					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTCACCCTCAATGTCCATC	0.572000													3	40					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150785759	150785759	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:150785759C>T	ENST00000358595.5	-	21	2369	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V	ARNT_ENST00000515192.1_Silent_p.V709V|ARNT_ENST00000505755.1_Silent_p.V708V|ARNT_ENST00000354396.2_Silent_p.V721V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	723	Gln-rich.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCAGACACCCACACCCTCTG	0.522000			T	ETV6	AML						OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	93					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86919900	86919900	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:86919900G>C	ENST00000373119.4	+	10	2207	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.E688Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	688						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAACACAGTTGAGTCATATGA	0.353000													21	10					0	0	1	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212530321	212530321	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:212530321C>T	ENST00000261461.2	+	10	1582	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	PPP2R5A_ENST00000537030.3_Silent_p.I279I	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	336					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGAAGAAATCTTAGATGTCA	0.289000													5	18					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224794	26224794	+	Silent	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:26224794A>G	ENST00000056233.3	+	4	1735	c.1476A>G	c.(1474-1476)caA>caG	p.Q492Q		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	492					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTACATTTCAACACGTATTTC	0.433000													38	61					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705417	95705417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:95705417G>A	ENST00000324972.6	+	15	1802	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D500N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D500N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D520N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D517N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D520N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	537					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTATGTGTACGATGTCATGTG	0.572000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	214					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149862095	149862095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:149862095C>T	ENST00000253329.2	-	4	336	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	102	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CCATGTTGATCACTGCCATTA	0.393000													25	42					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043673	25043673	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:25043673C>T	ENST00000216336.2	-	4	408	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	124	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCACTGGGTTCACGTTTCGAT	0.637000													27	97					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499511	4499511	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:4499511G>A	ENST00000301284.4	+	14	1663	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	HDGFRP2_ENST00000586684.1_Silent_p.K533K	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		533					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AAGCGAACAAGGACGTAATGG	0.607000													6	15					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869122	201869122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:201869122G>C	ENST00000367288.4	-	2	1265	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	340					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGCAGTCTGAGTTGTTGAC	0.527000													9	25					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22694613	22694613	+	RNA	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22694613G>A	ENST00000508166.1	+	0	77				GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCAGCTGAAGATCCCAGTAG	0.507000													4	15					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884705	64884705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:64884705C>G	ENST00000310597.4	-	1	465	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	141							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCAGCTCCTCCAGAAGCTGC	0.716000													4	21					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119130	93119130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:93119130G>T	ENST00000216487.7	+	6	1895	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	579					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCAAGGCTCGGCACCGGCTG	0.597000													15	107					6.49762e-13	6.99744e-13	1	1	0
SLC2A5	6518	broad.mit.edu	37	1	9097783	9097783	+	Silent	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:9097783G>T	ENST00000377424.4	-	12	1547	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	SLC2A5_ENST00000535586.1_Silent_p.I341I|SLC2A5_ENST00000536305.1_Silent_p.I397I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	456					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCAAGAAGATGTAGATGG	0.542000													33	79					3.03874e-20	3.33163e-20	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953740	161953740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:161953740T>C	ENST00000294794.3	-	8	2401	c.1978A>G	c.(1978-1980)Aag>Gag	p.K660E	OLFML2B_ENST00000367940.2_Missense_Mutation_p.K661E|OLFML2B_ENST00000367938.1_Missense_Mutation_p.K143E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	660	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGTCTCCTTCTGTGTGCTC	0.587000													14	61					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90484319	90484319	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:90484319A>G	ENST00000340281.4	+	9	1293	c.1150A>G	c.(1150-1152)Ata>Gta	p.I384V	ZNF326_ENST00000455342.2_Missense_Mutation_p.I178V|ZNF326_ENST00000370447.2_Missense_Mutation_p.I295V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGTAGTTAAAATAATTGAAAA	0.229000													13	26					0	0	1	0	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389598	52389598	+	RNA	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:52389598C>T	ENST00000443374.1	+	0	291																											GAATGTGAGTCTGAGTCTTTG	0.463000													12	16					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107599734	107599734	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:107599734G>A	ENST00000374736.3	-	10	1563	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	390					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTGTGGCTGGAGTGTCAGG	0.527000													21	18					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955842	38955842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:38955842C>T	ENST00000306658.7	-	1	369	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	102	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCACATTATCCAGGTAGGAT	0.473000													22	78					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936327	195936327	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:195936327G>A	ENST00000296326.3	-	3	407	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	110						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATTGCAGGCGGAAGGCCCCG	0.652000													5	21					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58940169	58940169	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:58940169T>A	ENST00000227451.3	+	1	205	c.101T>A	c.(100-102)gTc>gAc	p.V34D	DTX4_ENST00000532982.1_Intron	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	34	WWE 1.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GAGGCGGTGGTccgcgccggc	0.706000													4	14					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950665	38950665	+	Silent	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:38950665G>A	ENST00000302328.3	-	9	1320	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SCN11A_ENST00000444237.2_Silent_p.L374L|SCN11A_ENST00000450244.1_Silent_p.L374L|SCN11A_ENST00000456224.3_Silent_p.L374L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	374					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGACTGAGTAGAGCCCAGTAG	0.458000													4	67					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969450	118969450	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:118969450C>T	ENST00000334549.1	+	3	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	265						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATACTCCATCATCAGCAACC	0.517000													15	55					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390434	22390434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390434C>T	ENST00000334304.5	-	19	3129	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCGTGGGCTCCTTAAGCTCA	0.428000													10	66					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													5	22					0.00116845	0.0011947	1	1	0
SNX21	90203	broad.mit.edu	37	20	44463731	44463731	+	Silent	SNP	C	C	T	rs141490712	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:44463731C>T	ENST00000372542.1	+	2	708	c.396C>T	c.(394-396)gtC>gtT	p.V132V	SNX21_ENST00000372541.1_Silent_p.V132V|SNX21_ENST00000462307.1_Silent_p.V141V|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.V141V|SNX21_ENST00000491381.1_Silent_p.V141V			Q969T3	SNX21_HUMAN	sorting nexin family member 21	141	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CTAACGTTGTCAAGGACCCGC	0.592000													11	46					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133664	91133664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:91133664G>A	ENST00000373094.1	+	2	3270	c.2425G>A	c.(2425-2427)Gac>Aac	p.D809N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D809N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D809N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	809					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCAACTAGTGACTATGTCAA	0.468000													46	13					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099395	27099395	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:27099395A>G	ENST00000324856.7	+	14	4003	c.3632A>G	c.(3631-3633)tAt>tGt	p.Y1211C	ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1211C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y828C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1211					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCTGGGTATCAGCCCAGT	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	34					0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950460	123950460	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:123950460G>T	ENST00000526639.2	+	2	952	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	SNRNP35_ENST00000412157.2_Missense_Mutation_p.D130Y|SNRNP35_ENST00000350887.5_Missense_Mutation_p.D125Y|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	125	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GATATTTGTGGACTACGAGCT	0.532000													40	63					3.61848e-18	3.94349e-18	1	1	0
CNOT11	55571	broad.mit.edu	37	2	101869656	101869656	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:101869656A>T	ENST00000289382.3	+	1	393	c.230A>T	c.(229-231)gAg>gTg	p.E77V		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		ATCATATCGGAGGAGGCGGGC	0.706000													7	13					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275437	35275437	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:35275437G>C	ENST00000356321.4	-	3	543	c.199C>G	c.(199-201)Cta>Gta	p.L67V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGATGAACTAGTTGTCTAAAG	0.363000													11	32					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230870	7230870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:7230870G>T	ENST00000379938.2	+	10	3075	c.2538G>T	c.(2536-2538)gaG>gaT	p.E846D	RREB1_ENST00000379933.3_Missense_Mutation_p.E846D|RREB1_ENST00000334984.6_Missense_Mutation_p.E846D|RREB1_ENST00000349384.6_Missense_Mutation_p.E846D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	846					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCGCGGGGAGGACAGTGGCT	0.711000													11	15					1.11149e-13	1.20411e-13	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:7064875C>G	ENST00000299481.4	+	4	1964	c.1618C>G	c.(1618-1620)Cga>Gga	p.R540G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348000													9	46					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33607167	33607167	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr18:33607167G>T	ENST00000399022.4	-	5	764	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	RPRD1A_ENST00000588737.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000590898.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S198Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S162Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S198Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	198										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						ATCTAATAGAGATACTTCTTG	0.373000													19	49					2.35188e-11	2.50317e-11	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16945765	16945765	+	RNA	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:16945765C>A	ENST00000412962.1	-	0	1754																											GGCACAACGGCAGTCACAAGA	0.562000													6	26					0.00621372	0.00628276	1	1	0
EFR3A	23167	broad.mit.edu	37	8	132991143	132991143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:132991143C>G	ENST00000254624.5	+	13	1601	c.1376C>G	c.(1375-1377)tCt>tGt	p.S459C	EFR3A_ENST00000519656.1_Missense_Mutation_p.S423C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	459						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTGCCAGGGTCTTTCCTGGAT	0.418000													48	151					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10262217	10262217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10262217G>A	ENST00000340748.4	-	23	2309	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	DNMT1_ENST00000540357.1_Missense_Mutation_p.P692S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P708S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	692	Required for activity.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCCATATTGGGACACCTGCAA	0.483000													30	110					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839203	42839203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:42839203G>A	ENST00000334370.4	+	4	1210	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MEGF8_ENST00000251268.6_Missense_Mutation_p.R192H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	192	EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGACCATGCCGCTGTGAGCCT	0.592000													3	25					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124564308	124564308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:124564308G>A	ENST00000532692.1	+	4	1843	c.422G>A	c.(421-423)aGt>aAt	p.S141N	SPA17_ENST00000227135.2_Missense_Mutation_p.S141N|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	141	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAAACAAATAGTCTTCAAAAT	0.393000													33	36					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137412	42137412	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42137412C>A	ENST00000382448.4	+	19	1953	c.1944C>A	c.(1942-1944)caC>caA	p.H648Q	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H648Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		417	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCCATGATCACAAGCTCTCAG	0.597000													10	20					9.70103e-10	1.02057e-09	1	1	0
LGALS8	3964	broad.mit.edu	37	1	236706280	236706280	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:236706280T>G	ENST00000526589.1	+	11	1135	c.615T>G	c.(613-615)gaT>gaG	p.D205E	LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.D146E|LGALS8_ENST00000525042.1_Missense_Mutation_p.D146E|LGALS8_ENST00000450372.2_Missense_Mutation_p.D205E|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.D205E|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.D205E|LGALS8_ENST00000526634.1_Intron			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	183	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGCAAAGATTCGACTGTCA	0.378000													11	65					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877187	76877187	+	Silent	SNP	C	C	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:76877187C>A	ENST00000409709.3	+	15	2048	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	MYO7A_ENST00000409893.1_Silent_p.I592I|MYO7A_ENST00000409619.2_Silent_p.I581I|MYO7A_ENST00000458637.2_Silent_p.I592I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	592	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAAGCAGATCTTCCAGGCCG	0.587000													18	15					3.32936e-07	3.42341e-07	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390433	22390433	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390433T>A	ENST00000334304.5	-	19	3130	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCCGTGGGCTCCTTAAGCTC	0.423000													10	67					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	62					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456431	60456431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:60456431G>C	ENST00000371201.3	-	12	1662	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	519							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTTCTGAGGGCTCAGG	0.493000													49	355					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158141128	158141128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:158141128G>C	ENST00000313708.6	-	12	1470	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N365K|EBF1_ENST00000517373.1_Missense_Mutation_p.N388K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	396					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTCACCTGGTTGTTGTGTG	0.448000			T	HMGA2	lipoma								18	75					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22768412	22768412	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:22768412C>G	ENST00000404625.1	+	4	770	c.311C>G	c.(310-312)tCt>tGt	p.S104C	IL6_ENST00000401630.3_Missense_Mutation_p.S81C|IL6_ENST00000258743.5_Missense_Mutation_p.S104C|IL6_ENST00000406575.1_Missense_Mutation_p.S104C|IL6_ENST00000401651.1_Missense_Mutation_p.S28C|IL6_ENST00000420258.2_Missense_Mutation_p.S158C|IL6_ENST00000407492.1_Missense_Mutation_p.S28C			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	104					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TGCTTCCAATCTGGATTCAAT	0.428000													13	24					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088559	86088559	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:86088559A>T	ENST00000330753.4	+	2	1468	c.701A>T	c.(700-702)gAa>gTa	p.E234V	FLRT2_ENST00000554746.1_Missense_Mutation_p.E234V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	234					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGCTCAAGGAATTTTCAATT	0.512000													47	65					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069499	29069499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069499G>A	ENST00000373812.3	+	4	1079	c.717G>A	c.(715-717)tgG>tgA	p.W239*	YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.W239*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.W189*|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	239					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCATCTTGGGCTGATATTG	0.488000													51	103					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39090566	39090566	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:39090566T>A	ENST00000295373.6	-	3	446	c.320A>T	c.(319-321)aAt>aTt	p.N107I	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	107							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTCTCTTGATTCTCAGAAGT	0.393000													44	52					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74539000	74539000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74539000G>A	ENST00000553458.1	-	4	352	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S85F|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	85						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ACGTTTGCAGGAAGCAATGGC	0.483000													19	22					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35748155	35748155	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:35748155G>C	ENST00000400441.3	-	18	2315	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	MROH8_ENST00000441008.2_Silent_p.L758L|MROH8_ENST00000217333.8_Silent_p.L601L					maestro heat-like repeat family member 8																		GAATTCTAAAGAGATGATTTC	0.488000													14	61					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44918553	44918553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:44918553C>T	ENST00000377967.4	+	12	1077	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q346*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	346					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTGTGCTGTACAATTGGACCA	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								24	10					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058278	92058278	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:92058278C>G	ENST00000256343.3	-	23	2934	c.2778G>C	c.(2776-2778)caG>caC	p.Q926H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	926					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGAAAACTTCTGATCCTTTG	0.363000													23	71					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189832	7189832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7189832C>T	ENST00000317370.8	+	11	1682	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAAACTCGAGGCCGGAC	0.542000													69	296					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648162	6648162	+	Silent	SNP	G	G	C			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:6648162G>C	ENST00000299441.3	-	14	6519	c.6108C>G	c.(6106-6108)ctC>ctG	p.L2036L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2036	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAATGAAGAGGACACGAT	0.607000													10	34					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093644	1093644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:1093644G>A	ENST00000359061.5	+	32	5331	c.5331G>A	c.(5329-5331)acG>acA	p.1777_1777insT	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T109T|MUC2_ENST00000441003.2_Silent_p.T1821T			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACCACTACGGTGACCCCAA	0.612000													45	76					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778361	31778361	+	Silent	SNP	C	C	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:31778361C>T	ENST00000375654.4	-	2	1578	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552000													40	76					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229606349	229606349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:229606349G>A	ENST00000261396.3	-	15	2145	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	NUP133_ENST00000537506.1_Missense_Mutation_p.P669L|NUP133_ENST00000366679.1_Missense_Mutation_p.P685L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	685					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACATCTGCAGGAGTCAGGTT	0.468000													28	62					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:46494559delT	ENST00000361297.2	+	18	2455	c.2172delT	c.(2170-2172)ccfs	p.P724fs	MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552													7	491	---	---	---	---					
LPAL2	80350	broad.mit.edu	37	6	160914198	160914198	+	RNA	DEL	T	T	-	rs72564692		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:160914198delT	ENST00000335388.5	-	0	326					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGATTTTAACTTTTTTTTTTA	0.348													2	4	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664564	124664565	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:124664564_124664565delCA	ENST00000325995.7	-	1	625_626	c.602_603delTG	c.(601-603)afs	p.M201fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	201	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGATCCAAACCATGAGGGCCTC	0.559													35	90	---	---	---	---					
TG	7038	broad.mit.edu	37	8	134024224	134024225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:134024224_134024225insT	ENST00000220616.4	+	36	6381_6382	c.6341_6342insT	c.(6340-6342)cgtfs	p.R2114fs	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Frame_Shift_Ins_p.R247fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.R484fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.R2057fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2114					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTTGCCCATGTCAGCACTG	0.540													571	93	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-	rs121913384		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:21971096delC	ENST00000579755.1	-	2	597	c.305delG	c.(304-306)gafs	p.G103fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					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.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	15	---	---	---	---					
DUSP16	80824	broad.mit.edu	37	12	12630855	12630856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:12630855_12630856insT	ENST00000228862.2	-	7	1540_1541	c.909_910insA	c.(907-912)ggcatcfs	p.I304fs	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	304					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGCCCTGATGCTCCAGTCTGGT	0.475													14	93	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21960698	21960698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:21960698delC	ENST00000405508.1	+	8	1199	c.923delC	c.(922-924)gafs	p.A308fs	TOX4_ENST00000448790.2_Frame_Shift_Del_p.A285fs|TOX4_ENST00000262709.3_Frame_Shift_Del_p.A308fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	308						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGGATCCAGCACCACCATCA	0.453													22	122	---	---	---	---					
TGM5	9333	broad.mit.edu	37	15	43527720	43527721	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:43527720_43527721insGGCT	ENST00000220420.5	-	10	1667_1668	c.1660_1661insAGCC	c.(1660-1662)cctfs	p.-553fs	TGM5_ENST00000349114.4_Frame_Shift_Ins_p.-471fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5						epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGGGACAGGGGGCTGCCATCG	0.530													18	47	---	---	---	---					
RPL3	6122	broad.mit.edu	37	22	39710765	39710766	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:39710765_39710766insA	ENST00000216146.4	-	6	947_948	c.774_775insT	c.(772-777)cactgcfs	p.C259fs	RPL3_ENST00000401609.1_Frame_Shift_Ins_p.C207fs|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	259					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					ACACGAGCAGGATGCCATGCCC	0.599													10	74	---	---	---	---					
