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
ANK1	286	broad.mit.edu	37	8	41552808	41552808	+	Missense_Mutation	SNP	C	C	T	rs144724635		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:41552808C>T	ENST00000396942.1	-	27	3085	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H	ANK1_ENST00000379758.2_Missense_Mutation_p.R1001H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1001H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1001H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1001H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1042H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1001H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1001	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGTCTCCACGGCCATGGGA	0.607000													79	113					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18248158	18248158	+	Silent	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:18248158C>A	ENST00000262811.5	+	18	1995	c.1995C>A	c.(1993-1995)acC>acA	p.T665T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	665	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGATGATACCAGCTACTTTG	0.627000													5	114					0.217242	0.217242	1	1	0
PHLDB3	653583	broad.mit.edu	37	19	44008242	44008242	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008242C>T	ENST00000292140.5	-	2	389	c.29G>A	c.(28-30)gGg>gAg	p.G10E	PHLDB3_ENST00000599242.1_Missense_Mutation_p.G10E	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCGGGGTCCCCTCCTCGGG	0.741000													6	13					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780908	60780908	+	Silent	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:60780908A>T	ENST00000313421.7	+	7	1350	c.1164A>T	c.(1162-1164)acA>acT	p.T388T	CD6_ENST00000452451.2_Silent_p.T388T|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Silent_p.T388T|CD6_ENST00000344028.5_Silent_p.T388T|CD6_ENST00000346437.4_Silent_p.T388T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	388					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTTCTGTGACAGTGAAAATAG	0.463000													4	166					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48563912	48563912	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:48563912G>T	ENST00000435803.1	+	54	14144	c.14120G>T	c.(14119-14121)aGa>aTa	p.R4707I	ABCA13_ENST00000544596.1_Missense_Mutation_p.R437I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4707					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGAAAAGAGAGTGTTTGAA	0.383000													10	21					7.48243e-07	7.78783e-07	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56545030	56545030	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:56545030C>A	ENST00000390649.3	+	9	2570	c.2570C>A	c.(2569-2571)gCg>gAg	p.A857E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	857						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTAAGGATGGCGTGTGAAGCC	0.473000													61	198					3.07184e-27	3.48142e-27	1	1	0
MCF2L2	23101	broad.mit.edu	37	3	183029545	183029545	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:183029545G>T	ENST00000328913.3	-	8	1066	c.769C>A	c.(769-771)Ctt>Att	p.L257I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.L257I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.L257I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L257I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	257					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGCTTTCCAAGTAATTTCAGC	0.383000													28	75					7.07758e-08	7.4424e-08	1	1	0
SON	6651	broad.mit.edu	37	21	34925139	34925139	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:34925139C>T	ENST00000356577.4	+	3	4077	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L	SON_ENST00000381679.4_Missense_Mutation_p.S1201L|SON_ENST00000290239.6_Missense_Mutation_p.S1201L|SON_ENST00000300278.4_Missense_Mutation_p.S1201L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1201					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCATCATCACCATCT	0.512000													58	147					0	0	1	0	0
CENPV	201161	broad.mit.edu	37	17	16253307	16253307	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:16253307G>A	ENST00000299736.4	-	2	509	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	152					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						CTCCACAGTGGCAGCCTCCTG	0.398000													4	108					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649571	206649571	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:206649571A>C	ENST00000367120.3	+	6	779	c.406A>C	c.(406-408)Atc>Ctc	p.I136L	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.I51L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	136	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCATCGCGACATCAAGCCGGG	0.622000													14	64					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44167974	44167974	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr20:44167974C>T	ENST00000600168.1	-	1	160	c.73G>A	c.(73-75)Gct>Act	p.A25T	WFDC6_ENST00000372670.3_Missense_Mutation_p.A25T|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				ATGCCTTCAGCGTGCCCAGGT	0.502000													25	66					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716394	164716394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:164716394G>A	ENST00000264382.3	-	38	4536	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1492	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTCCCCATCGTCCACTAGTA	0.383000										HNSCC(35;0.089)			4	132					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72700048	72700048	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:72700048C>G	ENST00000341689.3	+	5	690	c.636C>G	c.(634-636)ctC>ctG	p.L212L	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	212						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCTCTCTTCTCAACTACTTAA	0.438000													27	60					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249322	52249322	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249322C>T	ENST00000595042.1	-	3	1067	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R309Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	309					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCTCTCCCGGAAGTCCTG	0.537000													42	87					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210974	134210974	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:134210974C>G	ENST00000367882.4	+	1	699	c.439C>G	c.(439-441)Ccg>Gcg	p.P147A	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P147A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	147					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GTACATTCACCCGGTCAACCT	0.667000													48	128					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107930	26107930	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:26107930T>C	ENST00000338379.4	-	1	434	c.392A>G	c.(391-393)aAg>aGg	p.K131R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	131					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTCTTGGTCTTGGCAGAAAC	0.453000													54	124					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372485	1372485	+	Silent	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1372485C>T	ENST00000476993.1	+	2	330	c.252C>T	c.(250-252)acC>acT	p.T84T	VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	84	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCATACACCGAGTTCCCCT	0.701000													12	24					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576	by1000genomes	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:17083652C>T	ENST00000455405.2	-	0	936																											aaatctcaaccttgagtacaa	0.388000													6	67					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444249	5444249	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:5444249G>A	ENST00000300778.4	+	1	909	c.819G>A	c.(817-819)ctG>ctA	p.L273L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCACTGGTCCATGTTA	0.478000													33	67					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420665	37420665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:37420665C>T	ENST00000397225.2	+	2	1324	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MPST_ENST00000429360.2_Missense_Mutation_p.R137C|MPST_ENST00000401419.3_Missense_Mutation_p.R137C|MPST_ENST00000404802.3_Missense_Mutation_p.R137C|MPST_ENST00000397129.1_Missense_Mutation_p.R157C|MPST_ENST00000341116.3_Missense_Mutation_p.R137C|MPST_ENST00000404393.1_Missense_Mutation_p.R137C			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	137	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCACTGGCTGCGCCAGAACCT	0.677000													8	10					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606557	55606557	+	Silent	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:55606557A>G	ENST00000378396.1	+	1	330	c.330A>G	c.(328-330)gtA>gtG	p.V110V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACCTTTGTAGTGACTGAAT	0.433000													61	70					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212286830	212286830	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:212286830C>A	ENST00000342788.4	-	24	3177		c.e24-1		ERBB4_ENST00000402597.1_Splice_Site|ERBB4_ENST00000436443.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCATCCAACCTGGAAATTTA	0.348000										TSP Lung(8;0.080)			24	56					1.66031e-10	1.78264e-10	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68693217	68693217	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:68693217C>G	ENST00000283916.6	-	8	812	c.714G>C	c.(712-714)tgG>tgC	p.W238C	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.W121C|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	238	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGTGGCAATCCAGTCACGAG	0.313000													21	43					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23793497	23793497	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:23793497A>G	ENST00000397276.2	+	6	893	c.880A>G	c.(880-882)Agg>Ggg	p.R294G	PABPN1_ENST00000216727.4_Splice_Site_p.R294_splice|BCL2L2-PABPN1_ENST00000557008.1_Splice_Site_p.R321_splice|PABPN1_ENST00000556821.1_Splice_Site_p.R166_splice|BCL2L2-PABPN1_ENST00000553781.1_Splice_Site_p.R321_splice|PABPN1_ENST00000557702.1_Missense_Mutation_p.R166G					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGCGTCTACAGGTCAGGATA	0.632000													25	102					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44008241	44008241	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008241C>G	ENST00000292140.5	-	2	390	c.30G>C	c.(28-30)ggG>ggC	p.G10G	PHLDB3_ENST00000599242.1_Silent_p.G10G	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCGGCGGGGTCCCCTCCTCGG	0.741000													6	14					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251460	216251460	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:216251460T>A	ENST00000366943.2	-	27	5929	c.5543A>T	c.(5542-5544)aAc>aTc	p.N1848I	USH2A_ENST00000307340.3_Missense_Mutation_p.N1848I|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1848	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1848T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATAAGAGTTCAGCAGTTC	0.463000										HNSCC(13;0.011)			81	90					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537000													21	78					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412781	6412781	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:6412781C>G	ENST00000342245.4	+	2	654	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SMPD1_ENST00000356761.2_Silent_p.L162L|SMPD1_ENST00000299397.3_Silent_p.L162L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Silent_p.L161L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	160	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTGGCCTGCTCCTGGGCTCCA	0.607000													11	19					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668112	102668112	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:102668112C>G	ENST00000315274.6	-	2	292	c.225G>C	c.(223-225)gtG>gtC	p.V75V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	75					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTTTCCCAGTCACTTTCAGCC	0.493000													31	898					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599164	59599164	+	Silent	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:59599164T>C	ENST00000541311.1	-	8	1338	c.1104A>G	c.(1102-1104)acA>acG	p.T368T	GIF_ENST00000257248.2_Silent_p.T393T			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	393	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTCAAAGGTGTTACACCAC	0.358000													33	50					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	39918178	39918178	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:39918178G>A	ENST00000379589.3	-	4	960	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	166						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGCCCAGCCGATTTCACACT	0.527000			T	HMGA2	lipoma								15	24					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271769	1271769	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271769C>A	ENST00000378888.5	-	15	2125	c.1841G>T	c.(1840-1842)aGc>aTc	p.S614I	DVL1_ENST00000378891.5_Missense_Mutation_p.S589I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGCCAGCTGCTCCCCACCCC	0.766000													10	24					7.03913e-09	7.47907e-09	1	1	0
LYN	4067	broad.mit.edu	37	8	56864548	56864548	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:56864548G>C	ENST00000520220.2	+	7	722	c.448G>C	c.(448-450)Gac>Cac	p.D150H	LYN_ENST00000519728.1_Missense_Mutation_p.D171H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	171	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GTCTGTCAGAGACTTTGACCC	0.388000													71	318					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044414	184044414	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:184044414G>A	ENST00000342981.4	+	21	3739	c.3325G>A	c.(3325-3327)Gca>Aca	p.A1109T	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A913T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A912T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1069T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1115T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1021T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1108T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1068T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A944T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1108T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A945T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1022T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1108					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTCAGACGCAGGTATGGA	0.592000													15	54					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101090568	101090568	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101090568T>A	ENST00000356713.4	+	1	1713	c.1424T>A	c.(1423-1425)aTt>aAt	p.I475N	CNNM1_ENST00000446890.1_Missense_Mutation_p.I404N|CNNM1_ENST00000370528.3_Missense_Mutation_p.I404N|CNNM1_ENST00000370534.4_Missense_Mutation_p.I110N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	475	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGGCACAACATTGTGGACATT	0.602000													24	56					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50316911	50316911	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50316911C>G	ENST00000404488.3	+	8	1000	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.P240A|CRELD2_ENST00000328268.4_Missense_Mutation_p.P240A|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	240						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGCCGCCTCCCTGCAGCGC	0.692000													6	37					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42538396	42538396	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:42538396G>A	ENST00000398675.3	-	1	285	c.53C>T	c.(52-54)tCg>tTg	p.S18L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S18L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	18					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAGGAGCGAGCAGAAGCC	0.746000													3	8					0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025612	55025612	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:55025612C>G	ENST00000257867.4	-	4	318	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ATACTTTTCTCCACTATGGAT	0.458000													41	120					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123789230	123789230	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:123789230C>G	ENST00000420886.2	-	28	3666	c.3667G>C	c.(3667-3669)Gaa>Caa	p.E1223Q	SBNO1_ENST00000602750.1_Missense_Mutation_p.E1222Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E1223Q|SBNO1_ENST00000267176.4_Missense_Mutation_p.E1222Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1223							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGATTCACTTCTTTAACTAAG	0.269000													29	95					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112922711	112922711	+	Silent	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:112922711C>T	ENST00000331203.2	+	3	640	c.369C>T	c.(367-369)ccC>ccT	p.P123P	FBLN7_ENST00000409903.1_Silent_p.P123P|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409667.3_Silent_p.P123P|FBLN7_ENST00000409450.3_Silent_p.P123P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	123	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGTGTCTTCCCAATGGCACCT	0.562000													28	65					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103414410	103414410	+	Silent	SNP	C	C	T	rs140175654	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:103414410C>T	ENST00000412401.2	+	4	625	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM182_ENST00000409173.1_Silent_p.F97F|TMEM182_ENST00000409528.1_Silent_p.F44F|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	140						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CAGCCCCCTTCGCCAGCCATT	0.517000													33	83					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024411	14024411	+	Silent	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:14024411A>G	ENST00000318003.7	+	6	949	c.708A>G	c.(706-708)ccA>ccG	p.P236P	CC2D1A_ENST00000589606.1_Silent_p.P236P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	236	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCACCGCCCCAGCCTCATCTC	0.672000													8	32					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3014913	3014913	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:3014913C>T	ENST00000572045.1	+	2	453	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	KREMEN2_ENST00000575885.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000571007.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000303746.5_Missense_Mutation_p.R50C|KREMEN2_ENST00000319500.6_Missense_Mutation_p.R50C|KREMEN2_ENST00000575769.1_Missense_Mutation_p.R50C	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	50	Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCACCAGAACCGCACTggccc	0.726000													3	5					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65372827	65372827	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:65372827C>T	ENST00000330909.8	-	15	2490	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.E831K|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	831	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGGACATTCTCCAAAATTC	0.438000													13	26					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106311745	106311745	+	RNA	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:106311745G>A	ENST00000390556.2	-	0	265																											TCTTGCTGGCGGTGTGCTGGA	0.612000													21	56					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051646	132051646	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:132051646G>A	ENST00000286355.5	-	1	3026	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R312W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	312					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACCGCCAGCCGGGGTATGACC	0.587000										HNSCC(32;0.087)			23	121					0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74750290	74750290	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:74750290G>T	ENST00000219368.3	-	6	1063	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	FA2H_ENST00000544337.1_Missense_Mutation_p.L119M	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	332					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGGGCCTTCAGGCTGTACAGG	0.557000													12	23					9.31168e-06	9.59385e-06	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923771	24923771	+	Silent	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:24923771A>T	ENST00000329468.2	+	1	3231	c.2757A>T	c.(2755-2757)ccA>ccT	p.P919P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGGGGAATCCAGCAACCCCAG	0.473000													42	132					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			33	63					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959992	45959992	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:45959992G>A	ENST00000400375.1	-	1	86	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	14						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCCAGGAGTCGGAGCAAGCGC	0.682000													4	123					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986736	11986736	+	RNA	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:11986736T>C	ENST00000434078.2	+	0	608					NR_027425.1																						TGCATCTGGCTGAGAAGATGT	0.507000													3	36					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41337138	41337138	+	Silent	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:41337138G>C	ENST00000361937.3	-	24	3295	c.2871C>G	c.(2869-2871)ctC>ctG	p.L957L	INO80_ENST00000401393.3_Silent_p.L957L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	957	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAAAGGAGAGTGGAAAAT	0.443000													52	97					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77907430	77907430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:77907430C>T	ENST00000529308.1	+	2	400	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	47					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTGGGCGCGCGCCTCTACGT	0.761000													8	8					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11141274	11141274	+	Silent	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:11141274G>T	ENST00000544779.1	-	11	1307	c.1302C>A	c.(1300-1302)ctC>ctA	p.L434L	EXOSC10_ENST00000376936.4_Silent_p.L434L|EXOSC10_ENST00000304457.7_Silent_p.L434L|EXOSC10_ENST00000485606.1_5'UTR			Q01780	EXOSX_HUMAN	exosome component 10	434					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGCGTAGCTGAGCATCTCCT	0.542000													33	78					1.08052e-11	1.18509e-11	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93760741	93760741	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:93760741T>C	ENST00000334746.5	-	3	932	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.M209V|BTBD7_ENST00000298896.3_Missense_Mutation_p.M209V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	209	BTB 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGTCCTCCATTCCAAACTCT	0.393000													40	90					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249948	52249948	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249948G>A	ENST00000595042.1	-	3	441	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FPR1_ENST00000304748.4_Silent_p.F100F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	100					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGGTAAAGACGAATTTGCACA	0.532000													30	86					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70080744	70080744	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chrX:70080744G>C	ENST00000395889.2	-	6	487	c.332C>G	c.(331-333)tCa>tGa	p.S111*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.S111*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.S96*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	111							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGGCAAATGAGGCTTCACA	0.338000													15	14					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061536	59061536	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:59061536A>T	ENST00000253024.5	+	16	2505	c.2216A>T	c.(2215-2217)gAt>gTt	p.D739V	TRIM28_ENST00000341753.6_Missense_Mutation_p.D657V	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	739	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCACCCTGGATCTGACCCTG	0.582000													12	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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)		TCTGTGCGCCGGTCTCTCCCA	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)			14	27					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186912	140186912	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr5:140186912G>A	ENST00000530339.1	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47H|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.662000													4	145					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336584	115336584	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:115336584A>T	ENST00000337530.6	+	2	520	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	KIAA1958_ENST00000536272.1_Missense_Mutation_p.Q75L|KIAA1958_ENST00000374244.3_Missense_Mutation_p.Q75L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	75										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTCTGTTTCCAGGATAACAGA	0.517000													4	81					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124491999	124491999	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:124491999T>G	ENST00000357628.3	-	11	1474	c.876A>C	c.(874-876)ttA>ttC	p.L292F	POT1_ENST00000393329.1_Missense_Mutation_p.L161F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	292					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGCAGATTCTAAATCCCTAT	0.313000													16	27					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208219239	208219239	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:208219239G>C	ENST00000367033.3	-	18	4236	c.3479C>G	c.(3478-3480)tCg>tGg	p.S1160W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1160	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGATGGGCGATCCTGGCTT	0.542000													30	125					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680265	31680265	+	Splice_Site	SNP	C	C	T	rs151182059	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr20:31680265C>T	ENST00000375483.3	+	9	1145	c.1143_splice	c.e9-1	p.T382_splice		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	382						cytoplasm|extracellular region	lipid binding										CTCCCCCAGACGCTGGTTGGG	0.607000													11	25					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60474521	60474521	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:60474521G>A	ENST00000300226.2	+	4	605		c.e4+1			NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		TTATTGCCTGGTAAGTTACAT	0.463000													4	119					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108137094	108137094	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:108137094A>T	ENST00000426128.2	-	6	1684	c.1559T>A	c.(1558-1560)gTt>gAt	p.V520D	PNPLA8_ENST00000422087.1_Missense_Mutation_p.V520D|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V520D|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V520D|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V420D|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V520D	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	520	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TACTGTTCCAACAATGACATT	0.323000													4	138					0	0	1	0	0
POLR2K	5440	broad.mit.edu	37	8	101163637	101163637	+	Silent	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:101163637C>A	ENST00000353107.3	+	2	189	c.54C>A	c.(52-54)atC>atA	p.I18I	POLR2K_ENST00000522439.1_Silent_p.I18I|POLR2K_ENST00000519765.1_3'UTR	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATATATATCTGTGGAGGTA	0.343000													102	140					2.00226e-37	2.3208e-37	1	1	0
DVL1	1855	broad.mit.edu	37	1	1271768	1271768	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271768G>A	ENST00000378888.5	-	15	2126	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	DVL1_ENST00000378891.5_Silent_p.S589S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCGCCAGCTGCTCCCCACCC	0.766000													10	24					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643994	64643994	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:64643994G>A	ENST00000371079.1	+	9	2645	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	ROR1_ENST00000545203.1_Missense_Mutation_p.S208N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	757	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGTCACACAAGCTCTACTACT	0.493000													23	74					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9455372	9455372	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:9455372G>A	ENST00000379719.3	+	18	2195	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	685					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTTTCAGCAAGATGGCTTTGA	0.403000													6	133					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:44524456G>T	ENST00000291552.4	-	2	193	c.101C>A	c.(100-102)tCt>tAt	p.S34Y	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								11	35					0.00136819	0.00139556	1	1	0
HLA-E	3133	broad.mit.edu	37	6	30457630	30457630	+	Silent	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:30457630G>T	ENST00000376630.4	+	2	257	c.192G>T	c.(190-192)ccG>ccT	p.P64P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	64	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CCGCGAGTCCGAGGATGGTGC	0.677000													42	66					3.70713e-34	4.24862e-34	1	1	0
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	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						CATTGAAATGTTCCACTTCCG	0.612000													52	116					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666606	19666606	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:19666606C>T	ENST00000284885.3	-	21	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGTGTGCGGCGGACACCAGC	0.577000													21	64					0	0	1	0	0
LINC00475	158314	broad.mit.edu	37	9	94903918	94903918	+	RNA	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:94903918C>G	ENST00000416438.2	+	0	170					NR_027341.1																						ACCTGGATCCCCTGACGGCTT	0.662000													5	5					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960821	50960821	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50960821C>G	ENST00000395701.3	+	15	1377	c.1283C>G	c.(1282-1284)tCc>tGc	p.S428C	NCAPH2_ENST00000299821.11_Missense_Mutation_p.S428C|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000420993.2_Missense_Mutation_p.S428C			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	428					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGAGGATTCCCTGGAAGAC	0.657000													15	51					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88696861	88696861	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:88696861G>A	ENST00000372027.4	-	7	2562	c.2489C>T	c.(2488-2490)gCc>gTc	p.A830V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	830	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGAAAAGCTGGCATAGAAGGC	0.498000													18	34					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617000													30	38					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181452	128181452	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:128181452C>A	ENST00000469083.1	-	2	3194	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G213W			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	213					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TTGAGCTGCCCGTCTTCCTCC	0.617000													30	79					9.78306e-22	1.09656e-21	1	1	0
SCARA3	51435	broad.mit.edu	37	8	27516175	27516175	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:27516175C>G	ENST00000301904.3	+	5	508	c.488C>G	c.(487-489)aCc>aGc	p.T163S	SCARA3_ENST00000337221.4_Missense_Mutation_p.T163S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	163					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CTCTCCACCACCAGCAGACAA	0.597000													25	68					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427494	76427494	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:76427494C>A	ENST00000357063.3	+	29	6047	c.4787C>A	c.(4786-4788)gCt>gAt	p.A1596D	LMO7_ENST00000321797.8_Missense_Mutation_p.A1311D|LMO7_ENST00000526202.1_Missense_Mutation_p.A1188D|LMO7_ENST00000341547.4_Missense_Mutation_p.A1262D|LMO7_ENST00000465261.2_Missense_Mutation_p.A1311D|LMO7_ENST00000377534.3_Missense_Mutation_p.A1596D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1596						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCCCTTCAGCTTCACAGTCA	0.542000													20	16					2.89027e-11	3.13625e-11	1	1	0
SOX9	6662	broad.mit.edu	37	17	70118926	70118926	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:70118926G>C	ENST00000245479.2	+	2	870	c.498G>C	c.(496-498)aaG>aaC	p.K166N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	166					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.K166delK(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TGCAGCACAAGAAGGACCACC	0.662000													25	61					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216657	154216657	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:154216657G>C	ENST00000338700.5	+	6	1044	c.979G>C	c.(979-981)Gat>Cat	p.D327H	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.D300H	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	300						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CGACCAGCTGGATTTCATCGT	0.597000													13	32					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134010363	134010363	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:134010363C>A	ENST00000359428.5	+	8	1054	c.910C>A	c.(910-912)Cat>Aat	p.H304N	RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	304					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGACAGCATCATTACTACCT	0.453000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								19	75					8.28177e-16	9.18196e-16	1	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006950	23006950	+	RNA	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:23006950G>A	ENST00000385099.1	+	0	53																											ACCATGGCCTGGGCTCTGCTC	0.637000													3	2					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	71					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													3	5	---	---	---	---					
POU3F2	5454	broad.mit.edu	37	6	99283427	99283427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:99283427delC	ENST00000328345.5	+	1	848	c.678delC	c.(676-678)gafs	p.D226fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	226					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ACCATGCCGACCACCACCCGC	0.771													2	4	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													7	230	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269890	88269891	+	RNA	INS	-	-	T	rs113056340		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:88269890_88269891insT	ENST00000390184.1	+	0	56_57																											AGAAGGAGCACTTTTTTTTTTT	0.317													5	5	---	---	---	---					
ZNF503-AS1	253264	broad.mit.edu	37	10	77054516	77054517	+	RNA	INS	-	-	AGAA	rs143565080	by1000genomes	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:77054516_77054517insAGAA	ENST00000418818.2	-	0	142																											ggagcccggagagaaagaaggg	0.718													4	4	---	---	---	---					
HELLS	3070	broad.mit.edu	37	10	96322571	96322571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:96322571delA	ENST00000348459.5	+	6	478	c.373delA	c.(373-375)tgfs	p.M125fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394036.1_Intron|HELLS_ENST00000394044.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	125					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ttttataGTTATGAGGAAAAA	0.284													25	58	---	---	---	---					
CWF19L1	55280	broad.mit.edu	37	10	101997803	101997804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101997803_101997804insT	ENST00000354105.4	-	11	1315_1316	c.1229_1230insA	c.(1228-1230)taafs	p.*410fs	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Frame_Shift_Ins_p.*165fs	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	410							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GATGGCTCTTATAATTTCTCTC	0.431													47	111	---	---	---	---					
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:102668791_102668793delCAG	ENST00000315274.6	-	1	98_100	c.31_33delCTG	c.(31-33)del	p.L11del	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	11					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CACCCCAGAACAGCAGCAGCAGC	0.498													7	294	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32182027	32182028	+	RNA	INS	-	-	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:32182027_32182028insT	ENST00000564730.1	-	0	388_389																											AGACCTCCTTGTAAGAACGGCC	0.391													2	4	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													6	7	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)del	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
VN1R4	317703	broad.mit.edu	37	19	53770579	53770580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:53770579_53770580insT	ENST00000311170.4	-	1	392_393	c.339_340insA	c.(337-342)aaccagfs	p.NQ113fs		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	113					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCCCACCTGGATTTCCTGGAGC	0.495										HNSCC(26;0.072)			9	44	---	---	---	---