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
PTGFRN	5738	broad.mit.edu	37	1	117491865	117491865	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:117491865T>A	ENST00000393203.2	+	4	1031	c.884T>A	c.(883-885)cTg>cAg	p.L295Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	295	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGAAAGGAACTGGACCTGACC	0.512000													27	98					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946025	150946025	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:150946025C>A	ENST00000261800.5	-	1	2480	c.2468G>T	c.(2467-2469)gGt>gTt	p.G823V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	823	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGTACCCACCGGGAGGAAA	0.517000													25	54					3.6726e-16	4.03306e-16	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50191117	50191117	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:50191117C>A	ENST00000335999.6	-	8	727	c.526G>T	c.(526-528)Gcg>Tcg	p.A176S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	172	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCATCCAGCGCTGGGGGTGGG	0.632000													19	12					5.35267e-07	5.59812e-07	1	1	0
SNRNP40	9410	broad.mit.edu	37	1	31762157	31762157	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:31762157G>T	ENST00000263694.4	-	4	493	c.475C>A	c.(475-477)Cca>Aca	p.P159T	SNRNP40_ENST00000446633.2_Missense_Mutation_p.P159T	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	159						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CTCCTGGCTGGATAACAGGAA	0.493000													87	86					3.49902e-48	4.01338e-48	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118475710	118475710	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:118475710A>G	ENST00000360388.4	+	2	477	c.276A>G	c.(274-276)acA>acG	p.T92T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	92					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ACGCCAACACACCAGTCTTCC	0.448000													85	83					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546755	74546755	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:74546755T>C	ENST00000299563.4	+	6	1120	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	369							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTGTCAGCCCTGAGAGCAATG	0.532000													10	114					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95516321	95516321	+	Silent	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:95516321A>T	ENST00000358780.5	-	5	783	c.471T>A	c.(469-471)tcT>tcA	p.S157S	FAM76B_ENST00000536839.1_Silent_p.S157S	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	157	Poly-Ser.									breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGATGAAGAAGATGAATTTG	0.403000													18	24					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58361439	58361439	+	Splice_Site	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:58361439G>A	ENST00000339656.5	+	1	215	c.33G>A	c.(31-33)caG>caA	p.Q11Q	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587_ENST00000423137.1_Splice_Site_p.Q11Q|ZNF587B_ENST00000316462.4_Intron|ZNF814_ENST00000597652.1_5'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GCCCAACTCAGGTAATTGTGG	0.667000													15	58					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107576709	107576709	+	Splice_Site	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:107576709T>C	ENST00000374736.3	-	26	4180	c.3786A>G	c.(3784-3786)tcA>tcG	p.S1262S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1262					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGCAGTTACCTGAGGTCTCAG	0.453000													14	48					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38560804	38560804	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:38560804A>G	ENST00000399017.2	+	39	7679	c.4932A>G	c.(4930-4932)gtA>gtG	p.V1644V	TTC3_ENST00000355666.1_Silent_p.V1644V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.V1644V|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1644					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGGTATCCGTACTTGAAAACT	0.398000													11	28					0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122744747	122744747	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:122744747C>T	ENST00000274026.5	-	1	340	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	13					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GAGCCCGCCTCGCGGGTCGCA	0.682000													4	8					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123020109	123020109	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:123020109G>T	ENST00000371199.3	+	2	896	c.597G>T	c.(595-597)caG>caT	p.Q199H	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.Q199H|XIAP_ENST00000355640.3_Missense_Mutation_p.Q199H	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	199					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACCAAGTGCAGTGCTTTTGTT	0.463000									X-linked Lymphoproliferative syndrome				25	11					2.39556e-15	2.61134e-15	1	1	0
CSTF1	1477	broad.mit.edu	37	20	54970640	54970640	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:54970640G>A	ENST00000217109.4	+	2	384	c.32G>A	c.(31-33)cGc>cAc	p.R11H	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	11					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGAAGGACCGCCAGCAGCTC	0.498000													9	66					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34175657	34175657	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:34175657C>G	ENST00000266483.2	+	1	442	c.123C>G	c.(121-123)caC>caG	p.H41Q	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Missense_Mutation_p.H41Q	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	41					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGATCTTCCACCTGCCTCAGG	0.617000													78	118					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20910273	20910273	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:20910273G>A	ENST00000261497.4	-	10	1461	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.R408W	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	420					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GTGATCTTCCGCCGCAGCTTG	0.547000													5	12					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16621380	16621380	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:16621380A>G	ENST00000375592.3	-	4	616	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	134										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCAAACACATACATAGACTGA	0.423000													62	59					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437940	124437940	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:124437940G>C	ENST00000291478.5	+	27	3656	c.3493G>C	c.(3493-3495)Gac>Cac	p.D1165H	KALRN_ENST00000360013.3_Missense_Mutation_p.D2862H|KALRN_ENST00000428018.2_Missense_Mutation_p.D1133H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGGGGACAGACATCTGGAG	0.547000													62	51					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75541837	75541837	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:75541837G>A	ENST00000372837.3	+	1	33	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	CHCHD1_ENST00000372833.5_Missense_Mutation_p.A2T			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	2						nucleus				breast(1)	1	Prostate(51;0.0112)					GTGCGCTATGGCGACACCCAG	0.662000													19	25					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905875	76905875	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:76905875C>T	ENST00000380887.2	+	2	251	c.179C>T	c.(178-180)cCc>cTc	p.P60L	ESRRB_ENST00000261532.7_Missense_Mutation_p.P60L|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.P60L|ESRRB_ENST00000509242.1_Missense_Mutation_p.P60L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GACTCGCCACCCATGTTTGCA	0.677000													17	11					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217224	44217224	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:44217224G>A	ENST00000371554.1	+	3	472	c.258G>A	c.(256-258)ttG>ttA	p.L86L	HSP90AB1_ENST00000353801.3_Silent_p.L86L|HSP90AB1_ENST00000371646.5_Silent_p.L86L			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	86					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTGACTTTGGTAGACACAG	0.458000													84	84					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21716181	21716181	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:21716181C>A	ENST00000261195.2	-	6	1176	c.922G>T	c.(922-924)Gtt>Ttt	p.V308F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	308					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGACCTCGAACAAAATCTTGG	0.328000													42	23					6.4771e-29	7.33e-29	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126746897	126746897	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:126746897C>T	ENST00000251772.4	+	23	4477	c.4408C>T	c.(4408-4410)Ctc>Ttc	p.L1470F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1493F			Q9UIW2	PLXA1_HUMAN	plexin A1	1493					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGAGGACAAGCTCATCCGGCA	0.627000													17	54					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269385	185269385	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:185269385G>A	ENST00000367498.3	-	12	1955	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P227S	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	445					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCTGGAACAGGAATCCAGTCA	0.368000													16	37					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186969426	186969426	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:186969426A>G	ENST00000337774.5	-	7	1396	c.1007T>C	c.(1006-1008)cTg>cCg	p.L336P	MASP1_ENST00000169293.6_Missense_Mutation_p.L336P|MASP1_ENST00000296280.6_Missense_Mutation_p.L336P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.L310P|MASP1_ENST00000392472.2_Missense_Mutation_p.L223P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	336	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGCACCTTCAGCACTTTGTA	0.557000													36	65					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850557	182850557	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:182850557C>G	ENST00000367549.3	+	23	2893	c.2783C>G	c.(2782-2784)gCt>gGt	p.A928G	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	928					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGGGATGATGCTAGGTATGAG	0.383000													57	216					0	0	1	0	0
FEN1	2237	broad.mit.edu	37	11	61563165	61563165	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:61563165T>C	ENST00000305885.2	+	2	745	c.332T>C	c.(331-333)cTg>cCg	p.L111P	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	111					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GAGAAGCAGCTGCAGCAGGCT	0.582000								Editing and processing nucleases					15	84					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988892	31988892	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:31988892G>A	ENST00000334664.2	+	1	143	c.119G>A	c.(118-120)gGc>gAc	p.G40D		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	40						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TATGGAAATGGCTACTACTGC	0.458000													68	56					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132065	21132065	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:21132065A>G	ENST00000601023.1	+	2	1214	c.568A>G	c.(568-570)Aag>Gag	p.K190E	ZNF85_ENST00000328178.8_Missense_Mutation_p.K249E|ZNF85_ENST00000345030.6_Missense_Mutation_p.K216E			Q03923	ZNF85_HUMAN	zinc finger protein 85	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TATTAAACATAAGAAAATTCA	0.348000													32	37					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28475549	28475549	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:28475549A>G	ENST00000261609.7	-	31	4881	c.4773T>C	c.(4771-4773)aaT>aaC	p.N1591N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1591					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTGTCCACATTTATTGGAC	0.398000													41	34					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15731661	15731661	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:15731661T>C	ENST00000399451.2	-	18	2105	c.1738A>G	c.(1738-1740)Aat>Gat	p.N580D	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N613D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	580						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCACTACTATTTCTGACATCA	0.368000													17	12					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44524827	44524827	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:44524827T>C	ENST00000355451.7	-	2	528	c.249A>G	c.(247-249)gaA>gaG	p.E83E		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3											endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCTCTTCAAGTTCCTGCCTTC	0.468000													15	60					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297621	77297621	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:77297621T>C	ENST00000393774.3	+	3	417	c.293T>C	c.(292-294)gTc>gCc	p.V98A	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.V81A	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	98										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GTAGTGCCTGTCTCCTACTTC	0.532000													17	26					0	0	1	0	0
PAGE5	90737	broad.mit.edu	37	X	55250422	55250422	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:55250422G>A	ENST00000289619.5	+	5	624	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PAGE5_ENST00000374952.1_Missense_Mutation_p.E90K|PAGE5_ENST00000374955.3_Missense_Mutation_p.E107K	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	127										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						tattataGGTGAAGGGCAACT	0.299000													7	45					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874815	20874815	+	RNA	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:20874815T>A	ENST00000556948.1	-	0	433																											TTAGGTGTAATGCCACTACTG	0.358000													32	256					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101276292	101276292	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:101276292T>C	ENST00000519449.1	-	8	1754	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Missense_Mutation_p.I480V	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	480					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CCAACATTTATATCATTTTCA	0.408000													12	159					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42156121	42156121	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:42156121G>T	ENST00000320955.6	-	40	7247	c.7020C>A	c.(7018-7020)agC>agA	p.S2340R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2340					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGTTGAGCTGGCTTCGCCGCT	0.602000													131	24					1.14069e-62	1.31345e-62	1	1	0
NEK3	4752	broad.mit.edu	37	13	52707315	52707315	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:52707315T>C	ENST00000400357.2	-	14	2726	c.1433A>G	c.(1432-1434)aAg>aGg	p.K478R	NEK3_ENST00000339406.3_Missense_Mutation_p.K495R|NEK3_ENST00000378101.2_Missense_Mutation_p.K495R|NEK3_ENST00000452082.2_Missense_Mutation_p.K499R			P51956	NEK3_HUMAN	NIMA-related kinase 3	495					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		AGCTCGCTTCTTCAGCTCTGA	0.502000													3	2					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112064677	112064677	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:112064677T>C	ENST00000357685.5	+	4	728	c.593T>C	c.(592-594)aTg>aCg	p.M198T	BCO2_ENST00000393032.2_Missense_Mutation_p.M164T|BCO2_ENST00000532593.1_Missense_Mutation_p.M93T|BCO2_ENST00000531169.1_Missense_Mutation_p.M164T|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.M164T|AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000438022.1_Missense_Mutation_p.M164T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	198					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACCAACTTTATGAATAAAGTG	0.338000													73	16					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	48					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642471	156642471	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:156642471C>T	ENST00000368223.3	-	4	1641	c.1509G>A	c.(1507-1509)ggG>ggA	p.G503G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	503	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTACCAACCCCCAGATTT	0.502000													40	182					0	0	1	0	0
CTSK	1513	broad.mit.edu	37	1	150772119	150772119	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:150772119C>T	ENST00000271651.3	-	6	795	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	229					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCATTCCCCTCGGGGATCTCT	0.512000													13	158					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113128028	113128028	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:113128028G>A	ENST00000393845.2	-	7	881	c.815C>T	c.(814-816)tCt>tTt	p.S272F	WDR52_ENST00000295868.2_Missense_Mutation_p.S272F|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	272										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AACTTCCTGAGAAAAAGCTTT	0.438000													24	262					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852703	182852703	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:182852703C>T	ENST00000367549.3	+	26	3303	c.3193C>T	c.(3193-3195)Ctg>Ttg	p.L1065L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1065					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTCACCCCCCTGCAGTTGCT	0.433000													40	116					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118642346	118642346	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:118642346C>T	ENST00000336338.5	-	6	777	c.712G>A	c.(712-714)Gct>Act	p.A238T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	238						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAAGCTCAGCCATAATTGCT	0.418000													33	116					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353000													4	161					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13866039	13866039	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:13866039C>G	ENST00000284951.5	-	10	985	c.911G>C	c.(910-912)gGa>gCa	p.G304A	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G304A|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	304						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGTAATTGTCCAAGAGAGAC	0.373000													41	55					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86098632	86098632	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:86098632C>T	ENST00000445632.2	+	3	488	c.216C>T	c.(214-216)atC>atT	p.I72I	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.I72I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	72										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAAATTTATCTTAATCCAGA	0.363000													39	65					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	12					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAAGCAGAGGCGGACGCCATT	0.632000													8	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428667	179428667	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:179428667C>T	ENST00000589042.1	-	326	82416	c.82192G>A	c.(82192-82194)Ggt>Agt	p.G27398S	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18458S|TTN_ENST00000342175.6_Missense_Mutation_p.G18525S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18333S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24830S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G25757S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25757							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGCACCACCATCTTGCAAA	0.473000													23	85					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852349	75852349	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:75852349G>C	ENST00000356136.3	+	15	2233	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	UVRAG_ENST00000531818.1_Missense_Mutation_p.E292D|UVRAG_ENST00000538870.1_Missense_Mutation_p.E220D|UVRAG_ENST00000528420.1_Missense_Mutation_p.E563D|UVRAG_ENST00000532130.1_Missense_Mutation_p.E292D|UVRAG_ENST00000533454.1_Missense_Mutation_p.E292D|UVRAG_ENST00000539288.1_Missense_Mutation_p.E292D	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	664					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGGCAGTAGAGTGTGACGAAC	0.517000													44	11					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204320185	204320185	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:204320185T>A	ENST00000319170.5	-	9	1576	c.1277A>T	c.(1276-1278)tAc>tTc	p.Y426F	RAPH1_ENST00000419464.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000418114.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000457812.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000423104.1_Missense_Mutation_p.Y453F|RAPH1_ENST00000453034.1_Missense_Mutation_p.Y478F|RAPH1_ENST00000308091.4_Missense_Mutation_p.Y478F|RAPH1_ENST00000374488.2_Missense_Mutation_p.Y451F|RAPH1_ENST00000374489.2_Missense_Mutation_p.Y453F|RAPH1_ENST00000439222.1_Missense_Mutation_p.Y451F|RAPH1_ENST00000374493.3_Missense_Mutation_p.Y478F	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	426	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGAACATAGTAGATACCAGA	0.388000													80	72					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207201	132207201	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:132207201C>T	ENST00000260818.6	+	30	3575	c.3327C>T	c.(3325-3327)atC>atT	p.I1109I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1109							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATACCATATCATGCAAGATA	0.373000													73	62					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814777	137814777	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:137814777G>A	ENST00000367734.2	-	1	754	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CCGGGTGCACGGAGTTGGCCG	0.706000													12	23					0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627692	31627692	+	Silent	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:31627692A>C	ENST00000375911.1	-	1	857	c.33T>G	c.(31-33)ccT>ccG	p.P11P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	11										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CCCAAGGGCGAGGTAGCCAGC	0.602000													5	15					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175111304	175111304	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:175111304C>T	ENST00000231683.2	+	1	2841	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	HRH2_ENST00000377291.2_Silent_p.A356A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	356					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCCAGGGAGCCACAGACAGGT	0.577000													15	79					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731039	23731039	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:23731039A>C	ENST00000397312.2	-	3	588	c.314T>G	c.(313-315)cTt>cGt	p.L105R	ELAVL2_ENST00000223951.6_Missense_Mutation_p.L105R|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L134R|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L105R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L105R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	105	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTTGGTTTGAAGTCTCAATCC	0.343000													20	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428666	179428666	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:179428666C>A	ENST00000589042.1	-	326	82417	c.82193G>T	c.(82192-82194)gGt>gTt	p.G27398V	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18458V|TTN_ENST00000342175.6_Missense_Mutation_p.G18525V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18333V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24830V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G25757V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25757							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTAGCACCACCATCTTGCAA	0.473000													24	83					5.35047e-06	5.52758e-06	1	1	0
SVIL	6840	broad.mit.edu	37	10	29812501	29812501	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:29812501T>C	ENST00000375398.2	-	17	3491	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	SVIL_ENST00000355867.4_Silent_p.E1014E|SVIL_ENST00000375400.3_Silent_p.E588E			O95425	SVIL_HUMAN	supervillin	1014					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATTCCTTCGGTTCATCCCCGA	0.507000													13	60					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290834	114290834	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:114290834C>A	ENST00000297405.5	-	3	745	c.501G>T	c.(499-501)aaG>aaT	p.K167N	CSMD3_ENST00000343508.3_Missense_Mutation_p.K127N|CSMD3_ENST00000455883.2_Missense_Mutation_p.K167N|CSMD3_ENST00000352409.3_Missense_Mutation_p.K167N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	167	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTAATATACCTTAAATCCAT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	47					0.00116845	0.00118442	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123966145	123966145	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:123966145G>C	ENST00000314393.4	+	3	3230	c.2395G>C	c.(2395-2397)Ggg>Cgg	p.G799R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	799						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGACGGTCGGGGAGGAGGA	0.617000													17	13					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612000													4	147					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958861	25958861	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:25958861G>A	ENST00000356865.6	-	10	2415	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	768					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCACTGAGTCGGCCCCCTTGG	0.602000													29	13					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67331464	67331464	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:67331464G>C	ENST00000304372.5	-	7	1144	c.1089C>G	c.(1087-1089)atC>atG	p.I363M		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	363						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGCAACTTTGATTGGCTCGT	0.502000													18	40					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193082	62193082	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:62193082C>T	ENST00000467148.1	-	12	6777	c.6708G>A	c.(6706-6708)agG>agA	p.R2236R	HELZ2_ENST00000427522.2_Silent_p.R1667R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TCAGCTCCATCCTTCTCAGGA	0.682000													9	29					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069215	82069215	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:82069215G>C	ENST00000199936.4	+	1	379	c.186G>C	c.(184-186)tcG>tcC	p.S62S		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	62					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TCCTCTTCTCGGTGTCATGCT	0.532000													52	26					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860539	43860539	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:43860539T>C	ENST00000389420.3	-	9	1282	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H428R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	428	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGCCATTACATGATACTTTGT	0.313000													19	105					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192522	66192522	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:66192522G>T	ENST00000311034.2	+	7	2337	c.2161G>T	c.(2161-2163)Gat>Tat	p.D721Y		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	721					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCTACCCCAGATCCCAGTGA	0.587000													30	122					1.2476e-16	1.37514e-16	1	1	0
CDH23	64072	broad.mit.edu	37	10	73439199	73439199	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:73439199C>A	ENST00000224721.6	+	16	1828	c.1823C>A	c.(1822-1824)gCa>gAa	p.A608E	CDH23_ENST00000299366.7_Missense_Mutation_p.A648E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	603	Cadherin 6.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATTGTCAGTGCATCTGCCTTT	0.597000													6	3					3.59834e-05	3.68534e-05	1	1	0
KLHL9	55958	broad.mit.edu	37	9	21333785	21333785	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:21333785A>G	ENST00000359039.4	-	1	1594	c.1074T>C	c.(1072-1074)taT>taC	p.Y358Y	KLHL9_ENST00000537938.1_Silent_p.Y290Y			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	358					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CTTTTGTATCATAATTACTCT	0.383000													17	62					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622073	61622073	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:61622073G>A	ENST00000398571.2	-	5	744	c.668C>T	c.(667-669)tCt>tTt	p.S223F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	223					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTCATGAGAGAAAGGCCATT	0.333000													24	41					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798886	57798886	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:57798886G>A	ENST00000302622.3	+	1	485	c.462G>A	c.(460-462)ctG>ctA	p.L154L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CCTGTTGGCTGGTAGGTTTCC	0.512000													19	108					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198968646	198968646	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:198968646A>G	ENST00000428675.1	+	5	3489	c.3091A>G	c.(3091-3093)Att>Gtt	p.I1031V	PLCL1_ENST00000437704.2_Missense_Mutation_p.I933V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1031					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCTTGGAACATTACAGTATT	0.398000													8	18					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108923844	108923844	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:108923844C>G	ENST00000263054.6	-	1	448	c.441G>C	c.(439-441)ccG>ccC	p.P147P	SORCS1_ENST00000344440.6_Silent_p.P147P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	147						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGCTTTGTCCGGGTCCCGCT	0.647000													19	37					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73336128	73336128	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:73336128C>T	ENST00000377767.4	-	17	2375	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	DIS3_ENST00000545453.1_Missense_Mutation_p.D597N|DIS3_ENST00000377780.4_Missense_Mutation_p.D729N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	759					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAATCATTATCCATTCCAGAA	0.373000										Multiple Myeloma(4;0.011)			27	14					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58392925	58392925	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:58392925C>T	ENST00000402135.3	-	8	676	c.640G>A	c.(640-642)Gag>Aag	p.E214K	FANCL_ENST00000233741.4_Missense_Mutation_p.E209K|FANCL_ENST00000403676.1_Missense_Mutation_p.E92K|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403295.3_Missense_Mutation_p.E209K	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	209					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CAGGTCTTCTCATCGATTTCA	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	69					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256391	47256391	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:47256391C>G	ENST00000256996.4	+	6	981	c.786C>G	c.(784-786)tcC>tcG	p.S262S	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.S198S|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	262					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCACAGCCTCCGTAGATCAAA	0.532000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	24					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5979159	5979159	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:5979159C>T	ENST00000379999.5	+	22	3305	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	FBXO18_ENST00000362091.4_Silent_p.S1016S|FBXO18_ENST00000397269.3_Silent_p.S520S|RP11-536K7.3_ENST00000397264.4_RNA	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1016					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGACAGCCTCCCCGGAGCAGG	0.637000													21	29					0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474795	20474795	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:20474795C>T	ENST00000375102.3	+	5	639	c.537C>T	c.(535-537)gtC>gtT	p.V179V		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	136					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCCTCAATGTCTACTGCCAGG	0.587000													73	41					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139601	125139601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:125139601C>T	ENST00000368417.1	+	6	664	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	NKAIN2_ENST00000546092.1_Nonsense_Mutation_p.Q135*|NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.Q187*	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	202						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTTACAACTACAGCCTATGTA	0.373000													31	36					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502894	39502894	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:39502894T>C	ENST00000265707.5	+	11	992	c.947T>C	c.(946-948)aTt>aCt	p.I316T	ADAM18_ENST00000379866.1_Missense_Mutation_p.I292T|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	316	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCGGTTATTATAGCTCAA	0.328000													70	196					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153591383	153591383	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:153591383G>A	ENST00000368699.1	-	5	788	c.285C>T	c.(283-285)atC>atT	p.I95I	S100A13_ENST00000440685.2_Silent_p.I95I|S100A13_ENST00000392623.1_Silent_p.I95I|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.I95I|S100A13_ENST00000392622.1_Silent_p.I95I	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	95					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	ACTTCTTCCTGATCTTCAGGT	0.522000													59	182					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116435017	116435017	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:116435017C>T	ENST00000281928.3	-	15	2794	c.2588G>A	c.(2587-2589)aGg>aAg	p.R863K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	863					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGGAAACATCCTTTGCAAGTC	0.403000													23	71					0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737190	62737190	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:62737190C>T	ENST00000369768.1	-	1	1334	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	332						plasma membrane	opioid receptor activity|protein binding	p.R332Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCTTCAGCACCGCAATATGCT	0.567000													31	18					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105441905	105441905	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:105441905A>G	ENST00000351513.2	-	5	950	c.818T>C	c.(817-819)aTa>aCa	p.I273T		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	273					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACTGGCTGCTATGGGTTCACC	0.438000													22	91					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133209345	133209345	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:133209345C>G	ENST00000320574.5	-	44	6084	c.6041G>C	c.(6040-6042)gGg>gCg	p.G2014A	POLE_ENST00000535270.1_Missense_Mutation_p.G1987A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2014					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCCTCAGCCCGTCCTTCAT	0.672000								DNA polymerases (catalytic subunits)					7	82					0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	208986530	208986530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:208986530C>T	ENST00000264376.4	-	3	419	c.392G>A	c.(391-393)tGg>tAg	p.W131*		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	131	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTAGAGGACCCAGGAGCCCTC	0.582000													23	95					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168271	49168271	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:49168271G>A	ENST00000307885.4	-	13	2891	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R733C|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R733C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	733					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACAATGCTGCGGGACAGACGT	0.547000													8	74					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750884	6750884	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:6750884G>A	ENST00000378827.4	+	2	1330	c.111G>A	c.(109-111)tcG>tcA	p.S37S		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	37			S -> A (in dbSNP:rs2273073).		BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CGGCGGCGTCGTCGGGCCGCC	0.687000													10	6					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896052	70896052	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:70896052C>T	ENST00000393567.2	-	69	11826	c.11676G>A	c.(11674-11676)gtG>gtA	p.V3892V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3892										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGAGGGCTCCACAGAGAAGG	0.547000													17	8					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208908	27208908	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:27208908T>C	ENST00000394906.2	-	10	1080	c.1003A>G	c.(1003-1005)Aag>Gag	p.K335E	FLOT2_ENST00000585169.1_Missense_Mutation_p.K280E|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.K280E			Q14254	FLOT2_HUMAN	flotillin 2	280					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ATGAGCTCCTTGTCCGTACGC	0.617000													24	73					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598332	58598332	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:58598332C>A	ENST00000240727.6	-	5	1085	c.686G>T	c.(685-687)tGg>tTg	p.W229L	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.W285L|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.W229L|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.W94L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	229					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGGTGGCCCCACTCCCCCAG	0.637000													11	45					3.07112e-06	3.17831e-06	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19775860	19775860	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:19775860A>G	ENST00000284885.3	-	1	113	c.80T>C	c.(79-81)aTa>aCa	p.I27T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	27					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						CACTACCAATATGGCAAAGAG	0.453000													60	44					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677000													12	13					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030698	3030698	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:3030698T>C	ENST00000328890.2	-	1	177	c.148A>G	c.(148-150)Att>Gtt	p.I50V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GTGTCAGTAATGATGACTAGA	0.522000													5	50					0	0	1	0	0
NKX2-3	159296	broad.mit.edu	37	10	101295003	101295003	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:101295003G>C	ENST00000344586.7	+	2	819	c.620G>C	c.(619-621)cGg>cCg	p.R207P		NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AAGAGACAGCGGCAGGACAAG	0.672000													4	10					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560072	32560072	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:32560072T>C	ENST00000345122.3	+	2	512	c.197T>C	c.(196-198)gTa>gCa	p.V66A	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V66A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V66A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V66A|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	66					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGAGGACGAGTAGTAAACAAT	0.363000													5	192					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211203	38211203	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:38211203C>A	ENST00000379705.3	-	11	3628	c.2771G>T	c.(2770-2772)gGa>gTa	p.G924V	TRPC4_ENST00000379681.3_Missense_Mutation_p.G929V|TRPC4_ENST00000379679.1_Missense_Mutation_p.G751V|TRPC4_ENST00000355779.2_Missense_Mutation_p.G783V|TRPC4_ENST00000379673.2_Missense_Mutation_p.G775V|TRPC4_ENST00000338947.5_Missense_Mutation_p.G751V|TRPC4_ENST00000447043.1_Missense_Mutation_p.G783V|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.G840V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	924	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CACTCTCTTTCCTACCTGTAA	0.463000													15	106					6.72482e-11	7.17234e-11	1	1	0
AK9	221264	broad.mit.edu	37	6	109962787	109962787	+	Silent	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:109962787T>G	ENST00000424296.2	-	10	943	c.867A>C	c.(865-867)ctA>ctC	p.L289L	AK9_ENST00000368948.2_Silent_p.L289L|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Silent_p.L289L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CTGCTCTTTTTAGGTTCAGAT	0.323000													11	29					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88297007	88297007	+	Silent	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:88297007T>A	ENST00000518476.1	+	7	924	c.873T>A	c.(871-873)ctT>ctA	p.L291L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	291										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTGAAATTCTTAAAATCCCAG	0.358000													7	22					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42501721	42501721	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:42501721T>C	ENST00000434000.1	-	7	536	c.254A>G	c.(253-255)aAg>aGg	p.K85R	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K163R			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	163	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTCACCTGCTTGTGTGCATG	0.373000													62	77					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	980882	980882	+	Missense_Mutation	SNP	G	G	A	rs148315419		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:980882G>A	ENST00000379370.2	+	14	2565	c.2515G>A	c.(2515-2517)Gat>Aat	p.D839N		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	839	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CATCGTCACCGATGGCCGGAG	0.642000													11	74					0	0	1	0	0
PSMD5	5711	broad.mit.edu	37	9	123586847	123586847	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:123586847T>C	ENST00000210313.3	-	7	1005	c.931A>G	c.(931-933)Atg>Gtg	p.M311V	PSMD5_ENST00000373904.5_Missense_Mutation_p.M268V	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ACACCAATCATAGTGGGGTCC	0.428000													83	49					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903510	62903510	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:62903510G>A	ENST00000512091.2	+	23	4196	c.3449G>A	c.(3448-3450)aGt>aAt	p.S1150N	LPHN3_ENST00000514591.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000545650.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1150N			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTACAGAGAGTTCCATTGGT	0.403000													6	114					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155380	109155380	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:109155380G>C	ENST00000261483.4	+	14	3172	c.2120G>C	c.(2119-2121)cGa>cCa	p.R707P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	707					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATCTCTTTTCGAGCACATATA	0.308000													36	126					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118968908	118968908	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:118968908C>T	ENST00000276201.2	-	11	1454	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	UPF3B_ENST00000345865.2_Missense_Mutation_p.G449E	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	462	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TGCTGAATCTCCAGACTTGGT	0.488000													49	20					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936327	34936327	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:34936327G>A	ENST00000382021.2	+	4	621	c.394G>A	c.(394-396)Gat>Aat	p.D132N	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D132N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D132N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	132					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GGAAGAGGTTGATGATTTCCC	0.323000													35	105					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145096583	145096583	+	RNA	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:145096583G>A	ENST00000453618.1	+	0	364							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTGGCGGACGGGCTCCCGCT	0.622000													6	20					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													3	62					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598891	29598891	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29598891G>A	ENST00000431530.3	+	1	144	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	19						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R29I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGGACAACAGAAATGCAGCA	0.458000													32	83					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126163434	126163434	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:126163434G>T	ENST00000287437.3	+	4	395	c.179G>T	c.(178-180)aGt>aTt	p.S60I	NSMCE2_ENST00000517315.1_5'UTR|NSMCE2_ENST00000522563.1_Missense_Mutation_p.S60I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	60					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTGAATATAGTATGGACAAG	0.313000													54	289					4.25531e-23	4.77917e-23	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100126564	100126564	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:100126564C>A	ENST00000524871.1	+	17	2368	c.2078C>A	c.(2077-2079)cCa>cAa	p.P693Q	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.P693Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.P693Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.P693Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.P619Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	693	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCTGGAGCCCAGCAGCTGAC	0.512000													16	23					1.3612e-06	1.41862e-06	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	30					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30329183	30329183	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:30329183G>C	ENST00000389194.2	-	16	3123	c.3118C>G	c.(3118-3120)Ctt>Gtt	p.L1040V	LTN1_ENST00000361371.5_Missense_Mutation_p.L994V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	994							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGGCTGGGAAGTGTCTTTATG	0.338000													41	32					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930260	45930260	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:45930260A>G	ENST00000275525.3	+	2	759	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	IGFBP1_ENST00000457280.1_Missense_Mutation_p.I155V|IGFBP1_ENST00000468955.1_Missense_Mutation_p.I155V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	155						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TTGGGACGCCATCAGTACCTA	0.522000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	48					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978839	11978839	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:11978839A>C	ENST00000304030.2	+	3	1155	c.955A>C	c.(955-957)Acc>Ccc	p.T319P	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.T183P	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACATGAAAGGACCCACTCTAG	0.403000													12	143					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121567513	121567513	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:121567513A>G	ENST00000361976.2	+	13	1676	c.1510A>G	c.(1510-1512)Atg>Gtg	p.M504V		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	504	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTACCAGATAATGTGGGCCAA	0.433000													50	46					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74594524	74594524	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:74594524G>T	ENST00000361874.3	-	19	2525	c.2208C>A	c.(2206-2208)gcC>gcA	p.A736A	DCTN1_ENST00000409868.1_Silent_p.A719A|DCTN1_ENST00000409240.1_Silent_p.A699A|DCTN1_ENST00000409567.3_Silent_p.A716A|DCTN1_ENST00000409438.1_Silent_p.A602A|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Silent_p.A602A|DCTN1_ENST00000394003.3_Silent_p.A729A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	736					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAGGCTGTTCGGCAAGGTGGA	0.527000													8	39					0.000157383	0.000159809	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129828766	129828766	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:129828766G>C	ENST00000421865.2	+	62	8885	c.8836G>C	c.(8836-8838)Gga>Cga	p.G2946R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2946	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATTTTGACGGAACCGGTTT	0.433000													50	166					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88799228	88799228	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:88799228G>A	ENST00000394480.2	-	3	478	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	NTRK3_ENST00000360948.2_Missense_Mutation_p.L53F|NTRK3_ENST00000357724.2_Missense_Mutation_p.L53F|NTRK3_ENST00000355254.2_Missense_Mutation_p.L53F|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Missense_Mutation_p.L53F|NTRK3_ENST00000558676.1_Missense_Mutation_p.L53F|NTRK3_ENST00000540489.2_Missense_Mutation_p.L53F|NTRK3_ENST00000557856.1_Missense_Mutation_p.L53F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L53I(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGGGGAAGAGGTTCCCATCG	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			21	58					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856093	12856093	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:12856093C>A	ENST00000332296.7	+	4	1476	c.1373C>A	c.(1372-1374)cCt>cAt	p.P458H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P213H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	458										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCCTGCCCTTCCTGTGGC	0.567000													52	339					5.80444e-35	6.60658e-35	1	1	0
NIFK	84365	broad.mit.edu	37	2	122488511	122488511	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:122488511C>T	ENST00000285814.4	-	4	594	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		174					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TAGCTAATTTCTTCCTGAGTA	0.383000													68	74					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133998	56133998	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:56133998C>T	ENST00000325351.4	-	2	130	c.91G>A	c.(91-93)Gat>Aat	p.D31N	ZNF784_ENST00000591479.1_Silent_p.*43*	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCAGTCATCAGGCACCAGG	0.627000													6	18					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3301786	3301786	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:3301786A>G	ENST00000378398.3	+	4	591	c.509A>G	c.(508-510)aAg>aGg	p.K170R	PRDM16_ENST00000511072.1_Missense_Mutation_p.K171R|PRDM16_ENST00000514189.1_Missense_Mutation_p.K171R|PRDM16_ENST00000441472.2_Missense_Mutation_p.K170R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.K170R|PRDM16_ENST00000442529.2_Missense_Mutation_p.K170R|PRDM16_ENST00000270722.5_Missense_Mutation_p.K170R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	170	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCTGGCTCAAGTACATCCGT	0.587000			T	EVI1	"""MDS, AML"""								57	104					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602348	138602348	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:138602348G>A	ENST00000440172.1	-	2	2072	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S675F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S625F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	675	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGATCACTAGAGTCAAACAA	0.483000			O	BRAF	pilocytic astrocytoma								20	33					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155031187	155031187	+	Splice_Site	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:155031187T>C	ENST00000356955.2	+	16	2020	c.1919T>C	c.(1918-1920)gTg>gCg	p.V640A	ADAM15_ENST00000359280.4_Splice_Site_p.V640A|ADAM15_ENST00000271836.6_Splice_Site_p.V640A|ADAM15_ENST00000360674.4_Splice_Site_p.V640A|ADAM15_ENST00000368413.1_Splice_Site_p.V346A|ADAM15_ENST00000368412.3_Splice_Site_p.V640A|ADAM15_ENST00000355956.2_Splice_Site_p.V640A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Splice_Site_p.V346A|ADAM15_ENST00000449910.2_Splice_Site_p.V640A|ADAM15_ENST00000531455.1_Splice_Site_p.V650A	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	640	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGGGTCAGGTGTGTATAGAC	0.547000													12	7					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975956	32975956	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:32975956T>A	ENST00000229829.5	-	2	240	c.165A>T	c.(163-165)gaA>gaT	p.E55D	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.E25D	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	55	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGAACAGCTGTTCCTCATCAA	0.597000													18	24					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275018	2275018	+	Silent	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:2275018T>G	ENST00000242257.8	-	3	508	c.480A>C	c.(478-480)acA>acC	p.T160T	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.T66T	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	160					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCCGGAACCCTGTGGCATTGG	0.582000													37	17					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85904642	85904642	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:85904642A>G	ENST00000372134.3	+	5	546	c.353A>G	c.(352-354)cAg>cGg	p.Q118R		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	118				Q -> R (in Ref. 4; CAB66648).	apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						ATTTGGCCTCAGTATGTCAAG	0.403000													21	73					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605933	47605933	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:47605933C>T	ENST00000371917.4	+	19	2645	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	882					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCCCCGTTTACCAGTGCCACT	0.527000													17	65					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212538619	212538619	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:212538619T>C	ENST00000261455.4	-	8	1128	c.991A>G	c.(991-993)Atg>Gtg	p.M331V	TMEM206_ENST00000535273.1_Missense_Mutation_p.M392V	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	331						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ATTTTGATCATCCATTTTATA	0.418000													83	24					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57960978	57960978	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:57960978C>T	ENST00000455537.2	+	7	845	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R102C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	191	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R191C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAAATCAAATCGTCATGTGGC	0.507000													18	95					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52744034	52744034	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:52744034C>T	ENST00000360540.5	-	6	1082	c.676G>A	c.(676-678)Gat>Aat	p.D226N	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.D150N|PCMTD1_ENST00000522514.1_Missense_Mutation_p.D226N	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	226						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTGCCATTATCATTCTTACTT	0.363000													13	38					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452248	43452248	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:43452248T>A	ENST00000282388.3	-	2	988	c.695A>T	c.(694-696)gAc>gTc	p.D232V	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	232					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCACGCAGGTCCCCGGAggc	0.706000													3	11					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099411	91099411	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:91099411C>G	ENST00000371818.4	+	2	1179	c.999C>G	c.(997-999)tcC>tcG	p.S333S	IFIT3_ENST00000371811.4_Silent_p.S333S|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	333					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ATGCATACTCCGATCTCGCTG	0.433000													19	73					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7864223	7864223	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:7864223C>T	ENST00000345088.2	+	1	174	c.57C>T	c.(55-57)acC>acT	p.T19T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	19						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AAATGCTCACCGAAGAAAATT	0.483000													21	8					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309250	248309250	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:248309250C>T	ENST00000366476.1	+	1	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTGATCGCTCCCCTATGCAGG	0.517000													177	47					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723975	126723975	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:126723975G>A	ENST00000251772.4	+	6	1786	c.1717G>A	c.(1717-1719)Gtc>Atc	p.V573I	PLXNA1_ENST00000393409.2_Missense_Mutation_p.V596I			Q9UIW2	PLXA1_HUMAN	plexin A1	596					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCAGCTGGCGTCAACTGCTC	0.662000													6	32					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018622	101018622	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:101018622A>G	ENST00000537247.1	+	10	2681	c.1727A>G	c.(1726-1728)gAt>gGt	p.D576G	GAS2L3_ENST00000539410.1_Missense_Mutation_p.D680G|GAS2L3_ENST00000547754.1_Missense_Mutation_p.D680G|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D680G			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	680					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGGAAGATGATGACCATTAT	0.353000													11	44					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325346	74325346	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:74325346T>C	ENST00000322348.4	-	1	1378	c.517A>G	c.(517-519)Aaa>Gaa	p.K173E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	173					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATGGCAACTTTGAAGGTATCA	0.398000													70	105					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690971	99690971	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:99690971G>C	ENST00000303887.5	-	14	2547	c.1902C>G	c.(1900-1902)atC>atG	p.I634M	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.I458M	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	634	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCATTAGCCTGATGGCTTCAT	0.507000													21	123					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759119	7759119	+	Missense_Mutation	SNP	G	G	A	rs145873257	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:7759119G>A	ENST00000340209.4	+	12	1369	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	RBFOX1_ENST00000422070.4_Missense_Mutation_p.G396S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G374S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G353S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G353S|RBFOX1_ENST00000552089.1_Silent_p.T387T|RBFOX1_ENST00000355637.4_Silent_p.T391T|RBFOX1_ENST00000535565.2_Silent_p.T327T|RBFOX1_ENST00000547372.1_Silent_p.T413T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G326S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G374S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	353					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCTACGGCGTTGGTGC	0.547000													23	52					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316814	78316814	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:78316814C>G	ENST00000409931.3	-	6	1225	c.1154G>C	c.(1153-1155)cGg>cCg	p.R385P	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R385P			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	385						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCACAGAGCCGGCTGCTTGT	0.552000													31	99					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150527459	150527459	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:150527459C>A	ENST00000354546.5	-	2	231	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	ANXA6_ENST00000521512.1_Missense_Mutation_p.A2S|ANXA6_ENST00000356496.5_Missense_Mutation_p.A2S|ANXA6_ENST00000377751.5_Missense_Mutation_p.A2S	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	2						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTTTGGCCATGGTCTCC	0.542000													3	14					0.115264	0.115654	1	1	0
RIN3	79890	broad.mit.edu	37	14	93118091	93118091	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:93118091T>C	ENST00000216487.7	+	6	856	c.697T>C	c.(697-699)Tgg>Cgg	p.W233R	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	233					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGACCGCCTGTGGTTTGTGAA	0.612000													84	16					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80615888	80615888	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:80615888C>G	ENST00000571995.1	-	6	819	c.688G>C	c.(688-690)Ggc>Cgc	p.G230R	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Missense_Mutation_p.G51R	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	230					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCATTCAGGCCGTTGGCCATC	0.637000													29	158					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36252865	36252865	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:36252865C>G	ENST00000344691.4	-	2	1993	c.416G>C	c.(415-417)cGa>cCa	p.R139P	RUNX1_ENST00000399240.1_Missense_Mutation_p.R139P|RUNX1_ENST00000486278.2_Missense_Mutation_p.R142P|RUNX1_ENST00000325074.5_Missense_Mutation_p.R154P|RUNX1_ENST00000300305.3_Missense_Mutation_p.R166P|RUNX1_ENST00000437180.1_Missense_Mutation_p.R166P|RUNX1_ENST00000358356.5_Missense_Mutation_p.R139P	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	139	Interaction with DNA.|Runt.		R -> Q (in FPDMM).		myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R166Q(3)|p.R166_S167insSNR(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTTCCACTTCGACCGACAAA	0.433000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	46					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46810288	46810288	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:46810288G>A	ENST00000529230.1	-	16	1957	c.1911C>T	c.(1909-1911)tgC>tgT	p.C637C	CKAP5_ENST00000415402.1_Silent_p.C637C|CKAP5_ENST00000354558.3_Silent_p.C637C|CKAP5_ENST00000312055.5_Silent_p.C637C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	637					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTAATGCCTGGCATGGCATTT	0.348000													42	14					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121828142	121828142	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:121828142A>G	ENST00000330540.2	+	5	850	c.734A>G	c.(733-735)cAc>cGc	p.H245R	CD86_ENST00000393627.2_Missense_Mutation_p.H239R|CD86_ENST00000469710.1_Missense_Mutation_p.H163R|CD86_ENST00000493101.1_Missense_Mutation_p.H133R|CD86_ENST00000264468.5_Missense_Mutation_p.H32R	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	245					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCCCCAGACCACATTCCTTGG	0.438000													82	131					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94048113	94048113	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:94048113G>A	ENST00000370244.1	-	9	1719	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	BCAR3_ENST00000539242.1_Silent_p.I153I|BCAR3_ENST00000370243.1_Silent_p.I477I|BCAR3_ENST00000260502.6_Silent_p.I477I|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.I386I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	477					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		catcatcaaggatcaagtagt	0.577000													9	15					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183388990	183388990	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:183388990G>T	ENST00000454652.2	+	7	1779	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	KLHL24_ENST00000476808.1_Missense_Mutation_p.D465Y|KLHL24_ENST00000242810.6_Missense_Mutation_p.D465Y	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGACCTGATGATAATACTTG	0.413000													61	69					1.12357e-39	1.28131e-39	1	1	0
FPR1	2357	broad.mit.edu	37	19	52249860	52249860	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:52249860G>A	ENST00000595042.1	-	3	529	c.388C>T	c.(388-390)Cca>Tca	p.P130S	FPR1_ENST00000304748.4_Missense_Mutation_p.P130S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	130					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)	GTCCAGACTGGATGCAGGACG	0.542000													15	63					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240024	21240024	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:21240024C>A	ENST00000261560.5	+	5	1091	c.910C>A	c.(910-912)Ctt>Att	p.L304I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTCCTCACACCTTACTACACA	0.408000													61	96					1.53716e-24	1.73625e-24	1	1	0
CELA3B	23436	broad.mit.edu	37	1	22304935	22304935	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:22304935C>T	ENST00000337107.6	+	2	136	c.117C>T	c.(115-117)agC>agT	p.S39S		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	39	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCCCCTACAGCTGGCCCTGGC	0.607000													9	135					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599997	29599997	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29599997G>A	ENST00000431530.3	+	1	1250	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	388						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAACCCAGGGGAGCAGGATTC	0.557000													12	37					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810364	106810364	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:106810364C>A	ENST00000526355.2	-	4	1496	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G343V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G343V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TAGACCTTCCCCCAACTGAAG	0.473000													9	13					1.12685e-05	1.1581e-05	1	1	0
FMO4	2329	broad.mit.edu	37	1	171300818	171300818	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:171300818A>G	ENST00000367749.3	+	6	854	c.524A>G	c.(523-525)gAg>gGg	p.E175G	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	175					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATAGTCAAGAGTACAAGATC	0.448000													15	300					0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154334879	154334879	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:154334879G>A	ENST00000325926.3	-	1	443	c.201C>T	c.(199-201)ctC>ctT	p.L67L	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	67					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						AGACCACGGTGAGTGAGAGCA	0.612000													24	26					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48229379	48229379	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:48229379C>G	ENST00000263277.3	+	4	1064	c.813C>G	c.(811-813)ttC>ttG	p.F271L	EHD2_ENST00000538399.1_Missense_Mutation_p.F135L|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	271					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGCGCCTCTTCGAGCTGGAGG	0.701000													3	7					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48666705	48666705	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:48666705A>G	ENST00000334136.5	+	10	956	c.778A>G	c.(778-780)Aca>Gca	p.T260A	HDAC6_ENST00000413163.2_Missense_Mutation_p.T205A|HDAC6_ENST00000444343.2_Missense_Mutation_p.T274A|HDAC6_ENST00000376619.2_Missense_Mutation_p.T260A			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	260	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGGTCAAGGAACACAGTTCAC	0.582000													8	2					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124720697	124720697	+	Splice_Site	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:124720697T>C	ENST00000311127.4	-	11	3583	c.3516A>G	c.(3514-3516)agA>agG	p.R1172R		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1172						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCCTCTTACCTCTAAAGATCC	0.542000													20	12					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947939	145947939	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:145947939C>T	ENST00000292562.7	-	5	1381	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGTGTGAATTCTCTCATGCTG	0.493000													12	117					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702200	27702200	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:27702200T>C	ENST00000438700.3	-	1	1097	c.980A>G	c.(979-981)tAc>tGc	p.Y327C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	327					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGTCTTCAGGTAGTACAGCAG	0.547000													48	94					0	0	1	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508663	102508663	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:102508663A>G	ENST00000372685.3	-	3	481	c.245T>C	c.(244-246)cTt>cCt	p.L82P	TCEAL8_ENST00000360000.4_Missense_Mutation_p.L82P	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						AAGCCTTTCAAGCTCATCTAC	0.468000													33	11					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73528731	73528731	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:73528731C>T	ENST00000339362.5	+	9	1782	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V	NEO1_ENST00000261908.6_Silent_p.V445V|NEO1_ENST00000558964.1_Silent_p.V445V|NEO1_ENST00000560262.1_Silent_p.V445V|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	445	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCGGGATGTCGTGGCCTCCC	0.552000													4	87					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244486	48244486	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:48244486G>T	ENST00000263277.3	+	6	1680	c.1429G>T	c.(1429-1431)Gtg>Ttg	p.V477L	EHD2_ENST00000538399.1_Missense_Mutation_p.V341L|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	477	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GACCTGGATGGTGGGGACCAA	0.617000													11	58					6.40141e-05	6.54489e-05	1	1	0
KPTN	11133	broad.mit.edu	37	19	47984254	47984254	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:47984254G>A	ENST00000338134.3	-	5	593	c.486C>T	c.(484-486)ctC>ctT	p.L162L	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	162					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCCCACTCAAGAGAAACACAG	0.562000													8	4					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80878471	80878471	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:80878471C>T	ENST00000355528.4	+	24	2208	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	TBCD_ENST00000539345.2_Missense_Mutation_p.P693L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	693					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TCCAAAATGCCCTTTAGAGGT	0.333000													7	0					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246010	33246010	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:33246010T>A	ENST00000451237.1	+	1	1094	c.814T>A	c.(814-816)Tct>Act	p.S272T		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	272					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCTGTCAGCGTCTGCTGTGCA	0.647000													14	47					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153670014	153670014	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:153670014G>A	ENST00000447750.2	+	8	1199	c.864G>A	c.(862-864)ccG>ccA	p.P288P		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	288					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTACATCCCGGACCGTGTGC	0.577000													33	74					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31724129	31724129	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:31724129T>A	ENST00000320027.5	-	8	1443	c.1099A>T	c.(1099-1101)Aat>Tat	p.N367Y	HSPH1_ENST00000380405.4_Missense_Mutation_p.N367Y|HSPH1_ENST00000429785.2_Missense_Mutation_p.N186Y|HSPH1_ENST00000445273.2_Missense_Mutation_p.N369Y|HSPH1_ENST00000380406.5_Missense_Mutation_p.N326Y	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	367					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCATCTGCATTGAGTGTTGTG	0.428000													9	245					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34512190	34512190	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:34512190C>T	ENST00000242317.4	+	14	1566	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	465					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTTGGACTCTCGTGAAGGTGC	0.517000									Kartagener syndrome				35	67					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154908	111154908	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:111154908G>A	ENST00000280325.4	+	3	262	c.115G>A	c.(115-117)Ggg>Agg	p.G39R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	39										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CTCCAGCGTGGGGAAGCCGTT	0.567000											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	42					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147820706	147820706	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:147820706A>G	ENST00000340253.5	+	21	3462	c.3294A>G	c.(3292-3294)ccA>ccG	p.P1098P	FBXO38_ENST00000513826.1_Silent_p.P853P|FBXO38_ENST00000394370.3_Silent_p.P1023P|FBXO38_ENST00000296701.6_Silent_p.P853P			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1098						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGCTCCATATTCCATGA	0.443000													41	50					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599131	29599131	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29599131G>C	ENST00000431530.3	+	1	384	c.326G>C	c.(325-327)aGa>aCa	p.R109T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	99						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGATTTTAGACTTTCTTCA	0.498000													32	68					0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82715390	82715390	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:82715390T>C	ENST00000396330.2	-	7	1261	c.755A>G	c.(754-756)gAa>gGa	p.E252G	SNX16_ENST00000353788.4_Missense_Mutation_p.E223G|SNX16_ENST00000345957.4_Missense_Mutation_p.E252G|RP13-923O23.6_ENST00000524337.1_RNA	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	252					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CTTTAGTGATTCCATCTCCTT	0.338000													27	98					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622089	234622089	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:234622089C>G	ENST00000608381.1	+	1	452	c.452C>G	c.(451-453)aCa>aGa	p.T151R	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.T151R|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTGGTTCTAACAGACCCCTTT	0.468000													113	211					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62273536	62273536	+	Silent	SNP	G	G	C	rs149816800		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:62273536G>C	ENST00000370053.1	-	4	489	c.408C>G	c.(406-408)ctC>ctG	p.L136L	STMN3_ENST00000540534.1_Silent_p.L125L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	136					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCTTGTAGTTGAGCTTCTCCT	0.682000													6	25					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38261979	38261979	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:38261979G>C	ENST00000379957.4	+	8	1300	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L	LETM2_ENST00000527710.1_Silent_p.L177L|LETM2_ENST00000524874.1_Silent_p.L343L|LETM2_ENST00000297720.5_Silent_p.L296L|LETM2_ENST00000523983.2_Silent_p.L344L|LETM2_ENST00000528827.1_3'UTR	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	391						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTTCTACCTGATAGATGTGA	0.567000													10	437					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	984806	984806	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:984806G>A	ENST00000379370.2	+	25	4539	c.4489G>A	c.(4489-4491)Ggc>Agc	p.G1497S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1497	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTTTGTGGGCGGCGTACCCGA	0.682000													5	46					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737513	28737513	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr18:28737513A>C	ENST00000257197.3	-	3	433	c.172T>G	c.(172-174)Tcg>Gcg	p.S58A	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S58A	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	58					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGGCTGGCCGACTTGAGACAC	0.453000													19	42					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543998	23543998	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:23543998T>A	ENST00000300619.7	-	4	1988	c.1783A>T	c.(1783-1785)Att>Ttt	p.I595F	ZNF91_ENST00000397082.2_Missense_Mutation_p.I563F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	595						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCAGTATGAATTATCTTATGT	0.358000													21	93					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897938	61897938	+	Silent	SNP	G	G	A	rs139799131		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:61897938G>A	ENST00000394818.3	+	4	1141	c.939G>A	c.(937-939)ccG>ccA	p.P313P	INCENP_ENST00000278849.4_Silent_p.P313P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	313					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGTCTTCCCCGAGTCCCCAAG	0.622000													6	113					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65346752	65346752	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:65346752C>T	ENST00000284037.5	+	20	2434	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S678F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S682F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	682					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCACTCTGCTCTCCAGTGAAA	0.343000													26	47					0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104636743	104636743	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:104636743T>C	ENST00000369880.3	+	7	638	c.561T>C	c.(559-561)taT>taC	p.Y187Y	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	187					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GTGACGTCTATACGAGCCTTG	0.383000													106	66					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72694561	72694561	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:72694561A>C	ENST00000326165.6	-	4	617	c.506T>G	c.(505-507)cTt>cGt	p.L169R	CD300LF_ENST00000464910.1_Missense_Mutation_p.L172R|CD300LF_ENST00000361254.4_Missense_Mutation_p.L187R|CD300LF_ENST00000301573.9_Silent_p.A184A|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.L187R|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.L184R|CD300LF_ENST00000343125.4_Intron|RAB37_ENST00000402449.4_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	169						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGCCACCAAAAGCAGCAGCAA	0.587000													3	19					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183658112	183658112	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:183658112T>C	ENST00000511685.1	+	17	3242	c.3119T>C	c.(3118-3120)gTa>gCa	p.V1040A	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.V1040A					teneurin transmembrane protein 3																		ATGGTAGCTGTAGTAGGAAGA	0.388000													37	59					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48050450	48050450	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:48050450T>A	ENST00000403359.3	-	12	1520	c.1448A>T	c.(1447-1449)gAa>gTa	p.E483V	FBXO11_ENST00000316377.4_Missense_Mutation_p.E399V|FBXO11_ENST00000402508.1_Missense_Mutation_p.E399V|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	483					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTTTTACTTCAAAGCCTGC	0.358000			"""Mis, F, D"""		DLBCL								39	59					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	92					0.00909568	0.00915745	1	1	0
TLN1	7094	broad.mit.edu	37	9	35717692	35717692	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:35717692G>A	ENST00000314888.9	-	18	2440	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	TLN1_ENST00000540444.1_Missense_Mutation_p.S696L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	696					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGAAGTCCCGAGTCCTCTGT	0.562000													17	93					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514630	79514630	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:79514630C>T	ENST00000537152.1	-	5	1550	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	C17orf70_ENST00000327787.8_Missense_Mutation_p.S493N|C17orf70_ENST00000425898.2_Missense_Mutation_p.S142N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	493					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAGTGCACAGCTCACGTTCAT	0.607000													59	32					0	0	1	0	0
MIR410	574434	broad.mit.edu	37	14	101532328	101532328	+	RNA	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:101532328C>T	ENST00000362222.2	+	0	80					NR_030156.1																						TTTTCAGTACCGCTACCGCCC	0.537000													40	13					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149901756	149901756	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:149901756G>T	ENST00000367419.5	+	6	735	c.614G>T	c.(613-615)aGc>aTc	p.S205I		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		CAAACCACTAGCCAGTATCTT	0.428000													31	53					6.00712e-18	6.68335e-18	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151163601	151163601	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:151163601C>T	ENST00000282466.3	-	4	4167	c.4168G>A	c.(4168-4170)Gtc>Atc	p.V1390I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1390					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGCAGAGACACTGGGCTTG	0.453000													68	127					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231218	6231218	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:6231218C>T	ENST00000316375.2	+	2	261	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	71										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGCAGGGCCGGAGGGCACT	0.612000													36	8					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49758232	49758232	+	Splice_Site	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:49758232G>A	ENST00000327697.6	+	37	3787		c.e37-1		RNF123_ENST00000433785.1_Splice_Site|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000497099.1_Splice_Site|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123							cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCACTCCCCAGATGCGGATTA	0.557000													53	33					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088841	43088841	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:43088841A>G	ENST00000359467.3	-	5	1671	c.1557T>C	c.(1555-1557)caT>caC	p.H519H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	519						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TCAACCCTGTATGAATTATCT	0.413000													79	23					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36558747	36558747	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:36558747C>T	ENST00000401500.2	+	7	752	c.717C>T	c.(715-717)ccC>ccT	p.P239P	WDR62_ENST00000270301.7_Silent_p.P239P|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.P239P	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	239					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACAGTGCCCCTTGTAGGGC	0.597000													27	52					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83843994	83843994	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:83843994G>A	ENST00000349129.2	+	19	3118	c.2858G>A	c.(2857-2859)cGt>cAt	p.R953H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R944H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R934H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	953					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTTTGTACGTTCTTTTGAC	0.363000													16	14					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47809062	47809062	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:47809062G>T	ENST00000273857.4	-	2	65	c.66C>A	c.(64-66)gtC>gtA	p.V22V	CORIN_ENST00000505909.1_Silent_p.V22V|CORIN_ENST00000504584.1_Silent_p.V22V|CORIN_ENST00000502252.1_Silent_p.V22V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	22					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCTCTCAAGACCTAAAGTA	0.408000													24	40					2.32416e-17	2.57132e-17	1	1	0
ELMOD3	84173	broad.mit.edu	37	2	85604591	85604591	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:85604591C>T	ENST00000315658.7	+	9	991	c.732C>T	c.(730-732)caC>caT	p.H244H	ELMOD3_ENST00000409890.2_Silent_p.H244H|ELMOD3_ENST00000409013.3_Silent_p.H244H|ELMOD3_ENST00000409344.3_Silent_p.H244H|ELMOD3_ENST00000393852.4_Silent_p.H244H|ELMOD3_ENST00000428955.2_Silent_p.H244H|ELMOD3_ENST00000490508.1_3'UTR	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	244	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CTCGTCACCACATCCAGGTGA	0.587000													17	16					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79846722	79846722	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:79846722C>G	ENST00000351004.3	+	8	1351	c.978C>G	c.(976-978)gcC>gcG	p.A326A	GNAI1_ENST00000457358.2_Silent_p.A274A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	326					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TCACATGTGCCACAGATACTA	0.343000													17	75					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2191215	2191215	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:2191215G>A	ENST00000398665.3	+	5	505	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	157						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCGACGACGACCTGTTTGT	0.617000													14	41					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12903775	12903775	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:12903775G>T	ENST00000380659.3	+	3	287	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	50					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGTGATCGTGGACTGCACAGA	0.468000													46	22					6.21074e-16	6.80771e-16	1	1	0
DICER1	23405	broad.mit.edu	37	14	95556946	95556946	+	Silent	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:95556946T>A	ENST00000526495.1	-	29	5949	c.5658A>T	c.(5656-5658)ggA>ggT	p.G1886G	DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.G1886G|DICER1_ENST00000527414.1_Silent_p.G1886G|DICER1_ENST00000343455.3_Silent_p.G1886G|DICER1_ENST00000556045.1_Silent_p.G784G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1886	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTTCCCCTTTCCTACTACTT	0.448000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				228	53					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52564861	52564861	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:52564861T>C	ENST00000261839.7	-	6	827	c.666A>G	c.(664-666)acA>acG	p.T222T	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.T165T	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	222	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AACTGATTTCTGTGTATTTCC	0.353000													24	37					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953616	44953616	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:44953616G>A	ENST00000393461.2	+	4	659	c.606G>A	c.(604-606)gtG>gtA	p.V202V	WNT9B_ENST00000290015.2_Silent_p.V202V			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	202					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CACAGGCTGTGAAGAGTGGCC	0.672000													11	14					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366789	49366789	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:49366789G>T	ENST00000371610.2	+	3	1126	c.883G>T	c.(883-885)Gac>Tac	p.D295Y	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	295					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CGAAGAAGATGACATTATCAT	0.453000													16	173					2.62699e-14	2.83753e-14	1	1	0
CALB1	793	broad.mit.edu	37	8	91072500	91072500	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:91072500A>G	ENST00000265431.3	-	11	868	c.687T>C	c.(685-687)aaT>aaC	p.N229N	CALB1_ENST00000518457.1_Silent_p.N172N	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	229						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTGTAATATTATTAATATCCA	0.358000													54	43					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48794547	48794547	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:48794547C>T	ENST00000314191.2	-	38	4941	c.4885G>A	c.(4885-4887)Gat>Aat	p.D1629N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D1629N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1630					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CACCATGAATCACACTTCTTC	0.443000								Non-homologous end-joining					31	29					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55516927	55516927	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:55516927G>T	ENST00000219070.4	+	2	769	c.260G>T	c.(259-261)gGt>gTt	p.G87V	MMP2_ENST00000437642.2_Missense_Mutation_p.G37V|MMP2_ENST00000543485.1_Missense_Mutation_p.G11V|MMP2_ENST00000570308.1_Missense_Mutation_p.G11V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	87					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCCCAGACAGGTGATCTTGAC	0.537000													7	106					0.0293803	0.0295297	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65677378	65677378	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:65677378G>A	ENST00000352385.2	-	19	3465	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1086						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGAGCCGGCCGGGGGCCTGCC	0.677000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115480800	115480800	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:115480800G>C	ENST00000369321.2	+	4	539	c.219G>C	c.(217-219)aaG>aaC	p.K73N	CASP7_ENST00000369315.1_Missense_Mutation_p.K40N|CASP7_ENST00000369318.3_Missense_Mutation_p.K40N|CASP7_ENST00000369331.4_Missense_Mutation_p.K40N|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.K15N|CASP7_ENST00000345633.4_Missense_Mutation_p.K40N	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	40					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GTAAGAAGAAGAAAAATGTCA	0.423000													61	67					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704264	75704264	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:75704264C>G	ENST00000370855.5	-	10	703	c.590G>C	c.(589-591)aGt>aCt	p.S197T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.S67T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S197T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	197						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATCATCTTACTTCCTATTGT	0.328000													16	33					0	0	1	0	0
COX7B	1349	broad.mit.edu	37	X	77160727	77160727	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:77160727G>A	ENST00000481445.1	+	3	328	c.212G>A	c.(211-213)aGa>aAa	p.R71K		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398000													41	15					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336399	147336399	+	Splice_Site	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:147336399G>A	ENST00000361727.3	+	13	2614		c.e13+1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACACCCCAGGTAGGCTGAGA	0.438000										HNSCC(39;0.1)			16	33					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100240783	100240783	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:100240783T>C	ENST00000450049.2	+	4	371	c.258T>C	c.(256-258)taT>taC	p.Y86Y		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	86							GTP binding			endometrium(1)|ovary(1)	2						CAAACTACTATGCACAGGCCC	0.458000													12	3					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56405207	56405207	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:56405207A>G	ENST00000355701.3	-	1	945	c.75T>C	c.(73-75)caT>caC	p.H25H	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.H25H|BZRAP1_ENST00000343736.4_Silent_p.H25H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	25						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCCAGCTATGCCAGGTGG	0.632000													8	32					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90682973	90682973	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:90682973C>A	ENST00000371926.3	+	11	2261	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	STAMBPL1_ENST00000371922.1_Missense_Mutation_p.L269M|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L435M|STAMBPL1_ENST00000371927.3_Intron	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	435							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGTGTTGGATCTGAGGTGATA	0.348000													7	35					8.12818e-05	8.29606e-05	1	1	0
FCHO1	23149	broad.mit.edu	37	19	17881377	17881377	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:17881377G>C	ENST00000594202.1	+	8	759	c.480G>C	c.(478-480)gaG>gaC	p.E160D	FCHO1_ENST00000596536.1_Missense_Mutation_p.E160D|FCHO1_ENST00000595033.1_Missense_Mutation_p.E110D|FCHO1_ENST00000596951.1_Missense_Mutation_p.E160D|FCHO1_ENST00000600676.1_Missense_Mutation_p.E160D|FCHO1_ENST00000539407.1_Missense_Mutation_p.E160D|FCHO1_ENST00000252771.7_Missense_Mutation_p.E160D|FCHO1_ENST00000597512.1_Missense_Mutation_p.E167D|FCHO1_ENST00000389133.4_Missense_Mutation_p.E160D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	160										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCCAGAAGGAGATGGACAAGG	0.632000													8	27					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	120991195	120991195	+	Splice_Site	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:120991195A>T	ENST00000359943.3	-	9	808		c.e9+1			NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					TATGACACTAACCTGTTCAAA	0.388000													25	73					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691666	30691666	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:30691666G>A	ENST00000396389.1	+	4	1366	c.773G>A	c.(772-774)cGt>cAt	p.R258H	TUBB_ENST00000327892.8_Missense_Mutation_p.R276H|TUBB_ENST00000396384.1_Missense_Mutation_p.R204H|TUBB_ENST00000330914.3_Missense_Mutation_p.R204H|TUBB_ENST00000435534.1_Intron			P07437	TBB5_HUMAN	tubulin, beta class I	276					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCACCAGCCGTGGAAGCCAG	0.597000													10	90					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120437	94120437	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:94120437C>A	ENST00000369303.4	-	3	798	c.614G>T	c.(613-615)tGc>tTc	p.C205F	EPHA7_ENST00000369297.1_Missense_Mutation_p.C205F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	205	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATGGACCAGCACTTCTTGTA	0.433000													18	21					8.00594e-06	8.25656e-06	1	1	0
CDK6	1021	broad.mit.edu	37	7	92462443	92462443	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:92462443C>T	ENST00000265734.4	-	2	606	c.195G>A	c.(193-195)ctG>ctA	p.L65L	CDK6_ENST00000424848.2_Silent_p.L65L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706000			T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89816263	89816263	+	Silent	SNP	G	G	A	rs55758861	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:89816263G>A	ENST00000389301.3	-	32	3144	c.3114C>T	c.(3112-3114)ctC>ctT	p.L1038L	FANCA_ENST00000568369.1_Silent_p.L1038L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1038					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGTGTGGCCGAGAGGCACTA	0.602000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				63	9					0	0	1	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155922	39155922	+	Missense_Mutation	SNP	C	C	T	rs147430362		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:39155922C>T	ENST00000391587.1	-	1	216	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	62						keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632000													9	26					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912130	150912130	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:150912130C>A	ENST00000329903.4	+	6	1188	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	385					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAGAGTTCCAGGCTAAGA	0.507000													27	81					1.5548e-18	1.73308e-18	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117359624	117359624	+	Missense_Mutation	SNP	G	G	C	rs142195236		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:117359624G>C	ENST00000160373.3	-	21	4669	c.4578C>G	c.(4576-4578)gaC>gaG	p.D1526E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1526										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GATCTGCTTCGTCATCTGAAC	0.433000													22	68					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140344413	140344413	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:140344413T>C	ENST00000371475.3	-	14	1612	c.1381A>G	c.(1381-1383)Atg>Gtg	p.M461V	NSMF_ENST00000339554.3_Missense_Mutation_p.M258V|NSMF_ENST00000371472.2_Missense_Mutation_p.M459V|NSMF_ENST00000371482.1_Missense_Mutation_p.M125V|NSMF_ENST00000541195.1_Missense_Mutation_p.M258V|NSMF_ENST00000437259.1_Missense_Mutation_p.M438V|NSMF_ENST00000371473.3_Missense_Mutation_p.M431V|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.M436V|NSMF_ENST00000392812.4_Missense_Mutation_p.M438V|NSMF_ENST00000265663.7_Missense_Mutation_p.M459V	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		TAGCAGCCCATGATGTGGATG	0.617000													6	118					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027399	40027399	+	Silent	SNP	G	G	A	rs144712960		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:40027399G>A	ENST00000181839.4	+	2	2018	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_ENST00000340829.5_Silent_p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502000													15	33					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44527576	44527576	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:44527576C>G	ENST00000291552.4	-	1	121	c.29G>C	c.(28-30)gGc>gCc	p.G10A	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.G10A|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	10					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			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TTTCTCGGTGCCGAAGATGGA	0.731000			Mis		"""CLL, MDS"""								10	13					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050941	8050941	+	RNA	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:8050941G>C	ENST00000607111.1	+	0	344																				kidney(1)|lung(4)|prostate(1)	6						gcaatggtgtgacgcaggtaa	0.433000													7	11					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55142521	55142521	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:55142521C>T	ENST00000427581.2	+	1	438	c.105C>T	c.(103-105)gaC>gaT	p.D35D	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396331.1_5'UTR|LILRB1_ENST00000396327.3_5'UTR|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000396321.2_Intron			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	0	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGGAGGAGACGCCATGACCC	0.582000										HNSCC(37;0.09)			11	74					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776268	53776268	+	Missense_Mutation	SNP	C	C	A	rs137863838		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:53776268C>A	ENST00000426431.2	+	3	576	c.516C>A	c.(514-516)ttC>ttA	p.F172L	SP1_ENST00000327443.4_Missense_Mutation_p.F179L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	179	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TCCCACAGTTCCAGACCGTTG	0.502000													50	109					3.19069e-20	3.5767e-20	1	1	0
LRP1	4035	broad.mit.edu	37	12	57589711	57589711	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:57589711T>C	ENST00000243077.3	+	54	9092	c.8626T>C	c.(8626-8628)Tgg>Cgg	p.W2876R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2876	LDL-receptor class A 19.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCCCGCCAGTGGGAGTGTGA	0.647000													24	34					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113252066	113252066	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:113252066C>A	ENST00000264852.4	+	1	924	c.198C>A	c.(196-198)ttC>ttA	p.F66L	SIDT1_ENST00000393830.3_Missense_Mutation_p.F66L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	66						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCTACTCTTTCAACTACACCA	0.622000													3	22					0.00909568	0.00915745	1	1	0
MORC3	23515	broad.mit.edu	37	21	37741563	37741563	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:37741563G>T	ENST00000400485.1	+	15	1973	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	633					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATCCCGATGCGACCAGGGAAA	0.458000													23	90					8.04996e-18	8.93937e-18	1	1	0
MAP4K2	5871	broad.mit.edu	37	11	64564142	64564142	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:64564142G>A	ENST00000294066.2	-	22	1627	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	MAP4K2_ENST00000377350.3_Silent_p.L504L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	512	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CATGCAGGTTGAGTGTGTAGA	0.632000													45	45					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39500223	39500223	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:39500223C>T	ENST00000518318.2	+	9	1522	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	POU6F2_ENST00000403058.1_Missense_Mutation_p.R494W|POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	494	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTAAAATCCGGCGCCTGTC	0.552000													5	12					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465361	10465361	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:10465361C>T	ENST00000382483.3	-	4	6470	c.6247G>A	c.(6247-6249)Gaa>Aaa	p.E2083K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2083					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTACATCTTCTGACTCTGGG	0.627000													45	125					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341446	136341446	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:136341446C>T	ENST00000371899.4	-	4	552	c.475G>A	c.(475-477)Gag>Aag	p.E159K	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.E159K	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	159						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGAGCAATCTCAGACACGTAC	0.622000													23	10					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850748	182850748	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:182850748C>G	ENST00000367549.3	+	24	2990	c.2880C>G	c.(2878-2880)ctC>ctG	p.L960L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	960					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGTTCAGCTCAAAGAGATTT	0.348000													32	106					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68436864	68436864	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:68436864G>T	ENST00000265404.2	+	2	265	c.183G>T	c.(181-183)aaG>aaT	p.K61N	STAP1_ENST00000396225.1_Missense_Mutation_p.K61N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	61	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCGACAAAAAGAGTATAATAG	0.338000													41	172					2.45108e-15	2.66695e-15	1	1	0
PCDHB15	56121	broad.mit.edu	37	5	140625549	140625549	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:140625549G>A	ENST00000231173.3	+	1	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		135					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGTTTCCTGAAAGAGAAAT	0.418000													38	131					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150900942	150900942	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:150900942G>A	ENST00000261800.5	-	18	11224	c.11212C>T	c.(11212-11214)Cat>Tat	p.H3738Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3738					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTGTTATGGCAGATTTGA	0.617000													7	81					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25637097	25637097	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:25637097C>T	ENST00000262394.2	+	7	1211	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	WSB1_ENST00000348811.2_Missense_Mutation_p.P153S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	299					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACCTGTTTCCCCCACCTAC	0.428000													22	200					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452110	53452110	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:53452110A>G	ENST00000314250.6	+	15	1396	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C	TENC1_ENST00000546602.1_Missense_Mutation_p.Y369C|TENC1_ENST00000552570.1_Missense_Mutation_p.Y369C|TENC1_ENST00000451358.1_Missense_Mutation_p.Y369C|TENC1_ENST00000549700.1_Missense_Mutation_p.Y369C|TENC1_ENST00000314276.3_Missense_Mutation_p.Y379C|TENC1_ENST00000379902.3_Missense_Mutation_p.Y245C	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	369	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GTAACATGTTATCACAAGGGT	0.612000													45	57					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65820496	65820496	+	Splice_Site	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:65820496A>G	ENST00000528302.1	+	3	234		c.e3-1		SF3B2_ENST00000322535.6_Splice_Site			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa						interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCTCTTTTGCAGACTGGCATC	0.507000													120	130					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	53					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110346145	110346145	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:110346145C>T	ENST00000239690.4	-	1	469	c.95G>A	c.(94-96)tGt>tAt	p.C32Y		NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	32										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGCTGGTAACAAGGCAGCGG	0.602000													19	50					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774703	66774703	+	RNA	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:66774703G>A	ENST00000416602.2	+	0	719					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACACAAAGAGGTGAGGAGTGT	0.537000													29	206					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251166	25251166	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:25251166T>C	ENST00000328086.7	-	7	3678	c.2875A>G	c.(2875-2877)Aag>Gag	p.K959E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	959					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGTCTTTCCCTTATGT	0.413000													33	77					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262659	140262659	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:140262659C>G	ENST00000289272.2	+	1	806	c.806C>G	c.(805-807)cCt>cGt	p.P269R	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P269R	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACAGATCCTGATGATGGT	0.398000													74	95					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142539746	142539746	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:142539746A>C	ENST00000367630.4	+	8	948	c.890A>C	c.(889-891)aAg>aCg	p.K297T	VTA1_ENST00000452973.2_Missense_Mutation_p.K212T|VTA1_ENST00000367621.1_Missense_Mutation_p.K239T	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	297	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AATCTACAAAAGGCTCTCAAG	0.433000													82	53					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35796450	35796450	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:35796450C>G	ENST00000216122.4	+	2	173	c.19C>G	c.(19-21)Cct>Gct	p.P7A	MCM5_ENST00000382011.5_Missense_Mutation_p.P7A	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	7					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATTCGACGATCCTGGCATTTT	0.672000													34	107					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159443179	159443179	+	Splice_Site	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:159443179T>C	ENST00000307765.5	+	1	300		c.e1+2		RXFP1_ENST00000470033.1_Splice_Site|RXFP1_ENST00000448688.2_Splice_Site|RXFP1_ENST00000472969.1_Splice_Site|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000423548.1_Splice_Site|RXFP1_ENST00000343542.5_Splice_Site	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAAAATATTGTAAGTATGCTC	0.299000													4	18					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544282	82544282	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:82544282G>T	ENST00000333891.9	-	7	13357	c.13020C>A	c.(13018-13020)acC>acA	p.T4340T	PCLO_ENST00000437081.1_Silent_p.T1060T|PCLO_ENST00000423517.2_Silent_p.T4340T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGCAAACTGGTCGGCTTAG	0.468000													16	48					6.31663e-08	6.62966e-08	1	1	0
GIPC1	10755	broad.mit.edu	37	19	14589328	14589328	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:14589328G>T	ENST00000393033.4	-	9	1171	c.902C>A	c.(901-903)gCc>gAc	p.A301D	GIPC1_ENST00000591349.1_Missense_Mutation_p.A204D|GIPC1_ENST00000586027.1_Missense_Mutation_p.A301D|GIPC1_ENST00000393029.3_Missense_Mutation_p.A204D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A301D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A204D	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	301					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CAGGGCCTCGGCCAGCTCATC	0.617000													6	17					0.217242	0.217609	1	1	0
GLRA1	2741	broad.mit.edu	37	5	151208511	151208511	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:151208511G>C	ENST00000274576.4	-	8	1322	c.1030C>G	c.(1030-1032)Cga>Gga	p.R344G	GLRA1_ENST00000455880.2_Missense_Mutation_p.R344G|GLRA1_ENST00000545569.1_Missense_Mutation_p.R261G	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	344					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCTGAATCGGAGCAGCTCC	0.468000													46	208					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129666041	129666041	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:129666041G>C	ENST00000358303.4	-	6	817	c.733C>G	c.(733-735)Cac>Gac	p.H245D	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.H245D|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.H245D|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.H224D	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	245					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCAGTGACGTGGACTTGGATG	0.453000													17	52					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	861048	861048	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:861048C>T	ENST00000314167.4	-	21	2678	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	GAK_ENST00000511163.1_Silent_p.L777L|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	856					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCTGCTGCACCAGCCCTGCTG	0.667000													38	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588822	179588822	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:179588822C>T	ENST00000589042.1	-	73	21388	c.21164G>A	c.(21163-21165)gGg>gAg	p.G7055E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5811E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G6738E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6738	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTAACACCCCACCAGTATT	0.438000													9	23					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725835	156725835	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:156725835C>T	ENST00000264424.8	+	12	1727	c.1645C>T	c.(1645-1647)Ctc>Ttc	p.L549F	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.L524F|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.L571F|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.L529F|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.L481F|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.L516F|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.L481F	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	549	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TACTGTCAACCTCACAAGCCG	0.398000													5	44					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47787024	47787024	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:47787024C>G	ENST00000359568.5	+	15	3242	c.3135C>G	c.(3133-3135)acC>acG	p.T1045T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1045					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGCCGGAACCGTGGCTCACG	0.637000													13	80					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52865664	52865664	+	RNA	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:52865664T>C	ENST00000451298.1	-	0	28																											GATGACACAATTGAATGAACA	0.299000													7	9					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877971	200877971	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:200877971G>A	ENST00000367342.4	+	7	1143	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E230K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	315	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGGAGCCCAGAACGGGCTCC	0.627000													26	33					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000780	11000780	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:11000780C>T	ENST00000324288.8	+	11	1564	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	477	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACAGCCACTCGTGGCGGCCG	0.587000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								23	109					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74035894	74035894	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:74035894C>G	ENST00000296805.3	-	12	1456	c.999G>C	c.(997-999)ctG>ctC	p.L333L	GFM2_ENST00000509430.1_Silent_p.L333L|GFM2_ENST00000427854.2_Silent_p.L333L|GFM2_ENST00000345239.2_Silent_p.L333L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	333					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTTTGTTTTTCAGGGCACTTC	0.408000													17	90					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145704284	145704284	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:145704284T>C	ENST00000235933.6	-	2	235	c.133A>G	c.(133-135)Act>Gct	p.T45A	CD160_ENST00000401557.3_Missense_Mutation_p.T45A|CD160_ENST00000369288.2_Missense_Mutation_p.T45A|CD160_ENST00000369290.1_Intron			O95971	BY55_HUMAN	CD160 molecule	45	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGCCATACAGTACAGATTAAG	0.463000													36	39					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106880632	106880632	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:106880632G>C	ENST00000286398.7	+	15	2260	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	SMC2_ENST00000374793.3_Missense_Mutation_p.D658H|SMC2_ENST00000303219.8_Missense_Mutation_p.D658H|SMC2_ENST00000374787.3_Missense_Mutation_p.D658H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	658	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGATGTGTTTGATCCTCATGG	0.363000													6	114					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30080205	30080205	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:30080205G>A	ENST00000566897.1	+	8	1598	c.446G>A	c.(445-447)cGt>cAt	p.R149H	ALDOA_ENST00000412304.2_Missense_Mutation_p.R149H|ALDOA_ENST00000569545.1_Missense_Mutation_p.R149H|ALDOA_ENST00000563060.2_Missense_Mutation_p.R149H|ALDOA_ENST00000395248.1_Missense_Mutation_p.R203H|ALDOA_ENST00000569798.1_Missense_Mutation_p.R149H|ALDOA_ENST00000395240.3_Missense_Mutation_p.R149H|ALDOA_ENST00000564546.1_Missense_Mutation_p.R149H|ALDOA_ENST00000564595.2_Missense_Mutation_p.R203H|ALDOA_ENST00000338110.5_Missense_Mutation_p.R149H			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	149					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCAAGTGGCGTTGTGTGCTG	0.582000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	88					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448912	155448912	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:155448912T>A	ENST00000368346.3	-	3	4388	c.3749A>T	c.(3748-3750)cAc>cTc	p.H1250L	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1250L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1250					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTACATTTGTGTTTATGTTT	0.393000													311	115					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61802167	61802167	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:61802167G>C	ENST00000325324.6	+	19	1934	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.E629Q	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	589						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTGTGTGATCGAAAGAGTCAA	0.348000													15	80					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68279380	68279380	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:68279380C>T	ENST00000219345.5	+	1	134	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PLA2G15_ENST00000413021.2_Silent_p.L17L|PLA2G15_ENST00000566188.1_Silent_p.L17L|PLA2G15_ENST00000444212.2_Silent_p.L17L	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	17					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGATGGCCTCCTGTTCCTCT	0.692000													6	2					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39128403	39128403	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:39128403C>T	ENST00000379907.4	+	20	2298	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000437682.2_Missense_Mutation_p.S625L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	724					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATCTAAATCGGAAGGTAGC	0.289000													16	76					0	0	1	0	0
SIRT7	51547	broad.mit.edu	37	17	79871995	79871995	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:79871995G>A	ENST00000328666.6	-	8	927	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	289	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTCGGCCGCCGGCTAGGGGGC	0.567000													22	35					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530858	42530858	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr18:42530858T>C	ENST00000282030.5	+	4	1849	c.1553T>C	c.(1552-1554)cTg>cCg	p.L518P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	518						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCAGAAAGCTGCCAGAAATC	0.507000									Schinzel-Giedion syndrome				17	54					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5804606	5804606	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:5804606A>G	ENST00000328090.5	+	20	7911	c.7286A>G	c.(7285-7287)tAt>tGt	p.Y2429C		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2429																	AGGAGTAGCTATTGGTAAGAA	0.348000													68	92					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756197	49756197	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:49756197C>A	ENST00000535833.1	-	10	4152	c.702G>T	c.(700-702)tgG>tgT	p.W234C	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.W234C|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	234	LRRCT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCGCTGGTGCCAGCGCTGTA	0.657000													15	5					4.7546e-09	5.03479e-09	1	1	0
DAK	26007	broad.mit.edu	37	11	61106844	61106844	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:61106844C>T	ENST00000394900.3	+	5	652	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	141	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGGACGACAGCGCCTTCACTG	0.657000													75	41					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26135257	26135257	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:26135257C>G	ENST00000361547.2	+	5	779	c.724C>G	c.(724-726)Cca>Gca	p.P242A	SEPN1_ENST00000374315.1_Missense_Mutation_p.P208A|SEPN1_ENST00000354177.4_Missense_Mutation_p.P208A	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	242						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTTCTATCCACCGCCGCC	0.672000													18	65					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396625	45396625	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:45396625A>G	ENST00000303230.4	-	4	1256	c.1199T>C	c.(1198-1200)cTg>cCg	p.L400P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	400						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGAAGAATCCAGAGACTGGAT	0.463000													13	22					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105909004	105909004	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:105909004C>T	ENST00000222553.3	-	6	956	c.649G>A	c.(649-651)Gga>Aga	p.G217R	NAMPT_ENST00000354289.4_Missense_Mutation_p.G217R	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	217					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTATCTGTTCCTTTGAAGTTA	0.378000													64	41					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776783	13776783	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:13776783A>T	ENST00000265104.4	-	55	9242	c.9138T>A	c.(9136-9138)gaT>gaA	p.D3046E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3046	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3046D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTAATTTCATCAATTTCAT	0.408000									Kartagener syndrome				18	82					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181754944	181754944	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:181754944C>T	ENST00000526775.1	+	42	5883	c.5718C>T	c.(5716-5718)ccC>ccT	p.P1906P	CACNA1E_ENST00000367570.1_Silent_p.P1925P|CACNA1E_ENST00000358338.5_Silent_p.P1857P|CACNA1E_ENST00000367573.2_Silent_p.P1925P|CACNA1E_ENST00000360108.3_Silent_p.P1906P|CACNA1E_ENST00000357570.5_Silent_p.P1876P|CACNA1E_ENST00000367567.4_Silent_p.P1532P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1925					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGGACCCCGTTTCAGGCC	0.542000													86	151					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135384182	135384182	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:135384182C>G	ENST00000354042.4	-	8	1515	c.826G>C	c.(826-828)Gct>Cct	p.A276P		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	276						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CCAATGGTAGCGGAGTAGGAT	0.522000													10	45					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24651138	24651138	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:24651138C>A	ENST00000341060.3	-	6	1188	c.793G>T	c.(793-795)Gca>Tca	p.A265S	TDP2_ENST00000545995.1_Missense_Mutation_p.A353S|TDP2_ENST00000378198.4_Missense_Mutation_p.A323S			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	323					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTTCTGCTGCTGCTCTGAAA	0.408000								Direct reversal of damage					26	176					3.6726e-16	4.03306e-16	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50530704	50530704	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:50530704G>A	ENST00000374144.3	+	3	402	c.114G>A	c.(112-114)cgG>cgA	p.R38R	C10orf71_ENST00000323868.4_Silent_p.R38R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	38										endometrium(1)	1						GGGCATTCCGGAGTTTGTGCA	0.552000													8	13					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824208	34824208	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:34824208T>A	ENST00000265109.3	+	15	2548	c.2261T>A	c.(2260-2262)cTt>cAt	p.L754H	RAI14_ENST00000512629.1_Missense_Mutation_p.L725H|RAI14_ENST00000397449.1_Missense_Mutation_p.L747H|RAI14_ENST00000506376.1_Missense_Mutation_p.L746H|RAI14_ENST00000515799.1_Missense_Mutation_p.L757H|RAI14_ENST00000428746.2_Missense_Mutation_p.L754H|RAI14_ENST00000503673.1_Missense_Mutation_p.L754H	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	754						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATAAGCAATCTTAAGGAACAC	0.428000													25	53					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602375	14602375	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:14602375G>T	ENST00000274217.3	+	5	552	c.432G>T	c.(430-432)gtG>gtT	p.V144V		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	144										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGATCAGTGTTATTTCAGA	0.383000													23	58					5.35356e-11	5.72011e-11	1	1	0
TRIM62	55223	broad.mit.edu	37	1	33613158	33613158	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:33613158C>T	ENST00000291416.5	-	5	1281	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	TRIM62_ENST00000543586.1_Missense_Mutation_p.V229I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	350	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CAGTAGTGGACGCCACTACTG	0.622000													10	34					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:134670357C>T	ENST00000398015.3	+	3	638	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	90						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGAGATGCGCTTCACTGT	0.537000													10	60					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42694417	42694417	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:42694417G>A	ENST00000254250.3	-	2	409	c.179C>T	c.(178-180)cCa>cTa	p.P60L	THAP1_ENST00000532093.1_5'UTR|THAP1_ENST00000345117.2_Intron	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	60					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAAGCAGTCTGGAGTAAAGTG	0.403000													76	207					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114165617	114165617	+	Splice_Site	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:114165617G>T	ENST00000369615.1	+	9	1422		c.e9+1		MAGI3_ENST00000369611.4_Splice_Site|MAGI3_ENST00000369617.4_Splice_Site|MAGI3_ENST00000307546.9_Splice_Site	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3						apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGCACCAGGTAAGAAATTT	0.313000													14	20					1.5842e-08	1.67159e-08	1	1	0
ATG4B	23192	broad.mit.edu	37	2	242598542	242598542	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:242598542A>G	ENST00000405546.3	+	7	980	c.478A>G	c.(478-480)Acg>Gcg	p.T160A	ATG4B_ENST00000404914.3_Missense_Mutation_p.T160A|ATG4B_ENST00000474739.2_Missense_Mutation_p.T146A|ATG4B_ENST00000396411.3_Missense_Mutation_p.T86A|ATG4B_ENST00000402096.1_Missense_Mutation_p.T86A			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	160					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCTTCGATACGTGGAGCTC	0.453000													6	24					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871779	57871779	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:57871779A>T	ENST00000381227.1	+	10	1524	c.1111A>T	c.(1111-1113)Agg>Tgg	p.R371W	POLR2B_ENST00000314595.5_Missense_Mutation_p.R371W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R364W|POLR2B_ENST00000431623.2_Missense_Mutation_p.R296W			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	371					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATGGTTCATAGGTTACTTCT	0.333000													16	13					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27009301	27009301	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:27009301G>A	ENST00000382009.3	+	8	1656	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	STIM2_ENST00000467011.1_Silent_p.Q376Q|STIM2_ENST00000412829.2_Silent_p.Q463Q|STIM2_ENST00000465503.1_Silent_p.Q376Q|STIM2_ENST00000237364.5_Silent_p.Q463Q|STIM2_ENST00000467087.1_Silent_p.Q376Q	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	376					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CTGAAATGCAGCTAGCTATTG	0.373000													23	36					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22215238	22215238	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:22215238C>T	ENST00000229329.2	+	7	1114	c.984C>T	c.(982-984)gcC>gcT	p.A328A		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	328					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGGCCTGTTCAAAGC	0.348000													12	20					0	0	1	0	0
GNG3	2785	broad.mit.edu	37	11	62476267	62476267	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:62476267G>A	ENST00000294117.5	+	3	476	c.217G>A	c.(217-219)Gct>Act	p.A73T	HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000405837.1_Intron	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	73					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GTTCTTCTGTGCTCTCCTCTG	0.562000													82	51					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140327507	140327507	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:140327507A>G	ENST00000341349.2	+	9	1011	c.831A>G	c.(829-831)aaA>aaG	p.K277K	NOXA1_ENST00000392815.2_Silent_p.K221K	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	277			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	K -> E (in Ref. 3; AAY16126).	regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		AAGTTGGCAAACAGGCTCCTC	0.677000													11	48					0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104634401	104634401	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:104634401G>A	ENST00000369880.3	+	6	588	c.511G>A	c.(511-513)Gca>Aca	p.A171T	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	171					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCTTCAGGAGGCATATCGGGT	0.403000													11	10					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30374866	30374866	+	Missense_Mutation	SNP	A	A	C	rs140028629	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:30374866A>C	ENST00000327564.7	+	9	2471	c.2410A>C	c.(2410-2412)Att>Ctt	p.I804L	LRRC37B_ENST00000394713.3_Missense_Mutation_p.I726L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I777L|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I695L|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I738L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	777						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCAGCTGACTATTGAGTCGGA	0.512000													152	123					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115420783	115420783	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:115420783G>T	ENST00000369522.3	+	12	1110	c.870G>T	c.(868-870)gaG>gaT	p.E290D	SYCP1_ENST00000369518.1_Missense_Mutation_p.E290D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	290					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGCTAGAGGAATCCAGAG	0.254000													24	58					2.44723e-14	2.64819e-14	1	1	0
ZNF550	162972	broad.mit.edu	37	19	58058965	58058965	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:58058965C>A	ENST00000325134.5	-	3	707	c.551G>T	c.(550-552)tGg>tTg	p.W184L	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.W216L|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.W175L			Q7Z398	ZN550_HUMAN	zinc finger protein 550	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACGAGATACCACTTCCTGTT	0.478000													93	68					1.63847e-34	1.86132e-34	1	1	0
LRRC8E	80131	broad.mit.edu	37	19	7964184	7964184	+	Silent	SNP	G	G	A	rs149579283	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:7964184G>A	ENST00000306708.6	+	3	878	c.777G>A	c.(775-777)acG>acA	p.T259T	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	259						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCGACAGACGGTGCTGAAAG	0.537000													23	16					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270324	1270324	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:1270324A>G	ENST00000447027.1	+	31	12281	c.12223A>G	c.(12223-12225)Agc>Ggc	p.S4075G	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4072G|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4072	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTCACCCTAGCAGCAGGAC	0.682000													62	28					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418628	80418628	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:80418628C>G	ENST00000265361.3	-	12	1909	c.1348G>C	c.(1348-1350)Gga>Cga	p.G450R	SEMA3C_ENST00000544525.1_Missense_Mutation_p.G468R|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G450R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	450	Sema.				immune response|response to drug	membrane	receptor activity	p.G450*(1)|p.G450R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTACCTGTTCCGAGAAACAGG	0.393000													32	82					0	0	1	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88923573	88923573	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:88923573C>T	ENST00000565504.1	+	1	39	c.15C>T	c.(13-15)atC>atT	p.I5I	TRAPPC2L_ENST00000567895.1_5'UTR|TRAPPC2L_ENST00000564365.1_Intron|TRAPPC2L_ENST00000568583.1_Silent_p.I5I|TRAPPC2L_ENST00000567312.1_Silent_p.I5I|TRAPPC2L_ENST00000301021.3_Silent_p.I5I			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	5					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		p.I5I(1)		lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGTGTGCATCGCGGTGATTG	0.682000													8	0					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768679	39768679	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:39768679C>T	ENST00000301653.4	-	1	326	c.262G>A	c.(262-264)Ggt>Agt	p.G88S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	88	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ccaaggccaccaccatatcct	0.632000													17	48					0	0	1	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30547040	30547040	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:30547040C>T	ENST00000399935.2	+	10	923	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.L186F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.L186F|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.L80F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		CAGGAAGGAGCTCATTGCCAA	0.453000													31	25					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135669838	135669838	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:135669838T>C	ENST00000520727.1	-	3	425	c.126A>G	c.(124-126)acA>acG	p.T42T	ZFAT_ENST00000429442.2_Silent_p.T42T|ZFAT_ENST00000520214.1_Silent_p.T42T|ZFAT_ENST00000520356.1_Silent_p.T42T|ZFAT_ENST00000377838.3_Silent_p.T54T|ZFAT_ENST00000523399.1_Silent_p.T54T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.T54T(1)|p.T42T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGGTTCAGGTGTACTCAGAG	0.512000													16	52					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82872452	82872452	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:82872452T>G	ENST00000298281.4	+	2	728	c.276T>G	c.(274-276)ttT>ttG	p.F92L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	92	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCACTGCCTTTACTAAAAATC	0.318000													8	15					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150527458	150527458	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:150527458G>A	ENST00000354546.5	-	2	232	c.5C>T	c.(4-6)gCc>gTc	p.A2V	ANXA6_ENST00000521512.1_Missense_Mutation_p.A2V|ANXA6_ENST00000356496.5_Missense_Mutation_p.A2V|ANXA6_ENST00000377751.5_Missense_Mutation_p.A2V	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	2						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGGTTTGGCCATGGTCTC	0.542000													3	14					0	0	1	0	0
SMIM19	114926	broad.mit.edu	37	8	42403804	42403804	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:42403804A>G	ENST00000438528.3	+	3	189	c.140A>G	c.(139-141)aAa>aGa	p.K47R	SMIM19_ENST00000414154.2_Missense_Mutation_p.K47R|SMIM19_ENST00000416469.2_Missense_Mutation_p.K47R|SMIM19_ENST00000490331.2_Missense_Mutation_p.K47R|SMIM19_ENST00000417410.2_Missense_Mutation_p.K47R	NM_001135676.1	NP_001129148.1			small integral membrane protein 19																		TTTAGGAACAAAAGGAGAATT	0.373000													15	135					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70301635	70301635	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:70301635G>C	ENST00000261772.8	-	9	1292	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	383					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGAGAGTCTTGAGAAACTGCA	0.502000											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	28					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115480794	115480794	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:115480794G>A	ENST00000369321.2	+	4	533	c.213G>A	c.(211-213)aaG>aaA	p.K71K	CASP7_ENST00000369315.1_Silent_p.K38K|CASP7_ENST00000369318.3_Silent_p.K38K|CASP7_ENST00000369331.4_Silent_p.K38K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Silent_p.K13K|CASP7_ENST00000345633.4_Silent_p.K38K	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	38					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TCACCAGTAAGAAGAAGAAAA	0.438000													63	69					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42856569	42856569	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:42856569G>C	ENST00000334370.4	+	18	3745	c.3110G>C	c.(3109-3111)cGg>cCg	p.R1037P	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1104P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1104						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCGGGGCTACCAG	0.667000													3	12					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599609	29599609	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29599609G>C	ENST00000431530.3	+	1	862	c.804G>C	c.(802-804)gaG>gaC	p.E268D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	258						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCCCTCAGAGACCCAAACAG	0.537000													9	29					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044006	33044006	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:33044006A>G	ENST00000286835.7	-	20	3532	c.3150T>C	c.(3148-3150)aaT>aaC	p.N1050N	SCAF4_ENST00000399804.1_Silent_p.N1028N|SCAF4_ENST00000434667.3_Silent_p.N1035N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1050						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAGAGCGTCTATTTCTCTCTT	0.502000													31	75					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139257719	139257719	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:139257719C>G	ENST00000406875.3	-	15	3645	c.3551G>C	c.(3550-3552)gGa>gCa	p.G1184A	HIPK2_ENST00000428878.2_Missense_Mutation_p.G1157A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1184	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CAGTGGGTATCCAGTGTAGAC	0.622000													5	37					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33817204	33817204	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:33817204T>G	ENST00000403368.1	-	3	349	c.280A>C	c.(280-282)Aca>Cca	p.T94P	FAM98A_ENST00000238823.8_Missense_Mutation_p.T94P|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	94										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TCCCCAGATGTCAGTGAAAGA	0.428000													45	118					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67077389	67077389	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:67077389C>A	ENST00000308127.4	+	12	1537	c.1359C>A	c.(1357-1359)aaC>aaA	p.N453K	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.N453K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	453	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCGCCCCAACCCTGGCTTCC	0.667000													35	16					4.65686e-17	5.1425e-17	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50596529	50596529	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:50596529C>G	ENST00000262794.5	+	23	3193	c.3110C>G	c.(3109-3111)cCg>cGg	p.P1037R	MOV10L1_ENST00000540615.1_Missense_Mutation_p.P1017R|MOV10L1_ENST00000395852.1_Missense_Mutation_p.P164R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P1037R|MOV10L1_ENST00000354853.2_Missense_Mutation_p.P80R|MOV10L1_ENST00000395843.1_Missense_Mutation_p.P80R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P1037R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1037					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.P1037Q(1)|p.P1017Q(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGTTCAACCCGGCCGAGGCC	0.587000													14	16					0	0	1	0	0
DCBLD1	285761	broad.mit.edu	37	6	117859920	117859920	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:117859920G>C	ENST00000338728.5	+	8	1018	c.898G>C	c.(898-900)Gct>Cct	p.A300P	DCBLD1_ENST00000296955.8_Missense_Mutation_p.A300P|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	300	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CCCATCATGGGCTTCGGGCGA	0.512000													32	26					0	0	1	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23598613	23598613	+	Missense_Mutation	SNP	G	G	A	rs151010809	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:23598613G>A	ENST00000570319.1	-	2	196	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	NDUFAB1_ENST00000007516.3_Missense_Mutation_p.R66C			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	66					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	CTATACTGGCGGCACAACTGT	0.463000													6	69					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27903237	27903237	+	Splice_Site	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:27903237C>T	ENST00000225394.3	-	14	1860		c.e14+1		RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|GIT1_ENST00000579937.1_Splice_Site	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGGTGACTCACAGTGCTGTGG	0.627000													51	52					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102869534	102869534	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:102869534G>A	ENST00000456098.1	-	2	325	c.107C>T	c.(106-108)gCg>gTg	p.A36V	IGF1_ENST00000337514.6_Missense_Mutation_p.A36V|IGF1_ENST00000392904.1_Missense_Mutation_p.A36V|IGF1_ENST00000424202.2_Missense_Mutation_p.A20V|IGF1_ENST00000307046.8_Missense_Mutation_p.A36V	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	36					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CAGGCACAGCGCCAGGTAGAA	0.597000													13	9					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107302154	107302154	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:107302154C>T	ENST00000265715.3	+	2	292	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	23					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TACATGGTGTCGCGGCCGGTC	0.687000									Pendred syndrome				3	3					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33976445	33976445	+	Missense_Mutation	SNP	G	G	A	rs146867345		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr21:33976445G>A	ENST00000382549.4	-	4	866	c.524C>T	c.(523-525)tCg>tTg	p.S175L	C21orf59_ENST00000290155.3_Missense_Mutation_p.S175L|C21orf59_ENST00000540881.1_Missense_Mutation_p.S119L|AP000275.65_ENST00000553001.1_Missense_Mutation_p.S175L			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	175						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CTGTGTTCCCGACAAGTCTTC	0.517000													14	51					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58370973	58370973	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:58370973A>G	ENST00000339656.5	+	3	1375	c.1193A>G	c.(1192-1194)cAt>cGt	p.H398R	ZNF587_ENST00000423137.1_Missense_Mutation_p.H397R|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H355R|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CTCGTTCACCATCAGCGAGGT	0.463000													106	138					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124357303	124357303	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:124357303G>C	ENST00000287394.5	-	19	2646	c.2539C>G	c.(2539-2541)Cgt>Ggt	p.R847G	ATAD2_ENST00000521903.1_Missense_Mutation_p.R165G	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTAGCTTCACGAATCACCTAG	0.398000													48	84					0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7734266	7734266	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:7734266C>T	ENST00000221515.2	+	2	142	c.54C>T	c.(52-54)agC>agT	p.S18S	RETN_ENST00000381324.2_Silent_p.S18S	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	18							hormone activity			ovary(1)	1						TGGTGTCTAGCAAGACCCTGT	0.592000													48	130					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494666	161494666	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:161494666A>G	ENST00000309758.4	+	1	631	c.218A>G	c.(217-219)aAg>aGg	p.K73R	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	73					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTCGATGCCAAGCGGCTGATC	0.687000													10	112					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108186754	108186754	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:108186754C>A	ENST00000278616.4	+	42	6497	c.6112C>A	c.(6112-6114)Cac>Aac	p.H2038N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.H2038N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2038	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACATATGAACACGAAGCAAT	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			20	4					8.28177e-16	9.06105e-16	1	1	0
UROC1	131669	broad.mit.edu	37	3	126229577	126229577	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:126229577C>G	ENST00000290868.2	-	2	240	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	UROC1_ENST00000383579.3_Missense_Mutation_p.E63Q	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	63					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGGCAAACTCTGGGGCCAGC	0.607000													7	74					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21969218	21969218	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:21969218T>A	ENST00000298717.4	-	5	1104	c.953A>T	c.(952-954)aAt>aTt	p.N318I	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	318					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAAACATGTATTAAGGAAAGA	0.428000													14	40					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92600430	92600430	+	Silent	SNP	C	C	A	rs150522138		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:92600430C>A	ENST00000298875.4	+	4	510	c.225C>A	c.(223-225)gtC>gtA	p.V75V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	75					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CGTATGCTGTCGGAAAGTTGG	0.433000													125	64					4.3601e-43	4.99138e-43	1	1	0
HAVCR2	84868	broad.mit.edu	37	5	156522343	156522343	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:156522343A>G	ENST00000307851.4	-	5	1380	c.650T>C	c.(649-651)cTt>cCt	p.L217P	HAVCR2_ENST00000522593.1_Missense_Mutation_p.L189P	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	217						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGAAGATAAGAGCCAGAGC	0.443000													57	38					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721273	73721273	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:73721273G>A	ENST00000427855.1	+	13	1457	c.1355G>A	c.(1354-1356)gGt>gAt	p.G452D	PAPLN_ENST00000381166.3_Missense_Mutation_p.G452D|PAPLN_ENST00000554301.1_Missense_Mutation_p.G452D|PAPLN_ENST00000340738.5_Missense_Mutation_p.G425D|PAPLN_ENST00000555445.1_Missense_Mutation_p.G452D			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	452	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACTTGCCGGGGTGAAAGGGGT	0.617000													67	25					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154383	100154383	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:100154383T>A	ENST00000263174.4	+	7	942	c.567T>A	c.(565-567)agT>agA	p.S189R	PALMD_ENST00000605497.1_Missense_Mutation_p.S189R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	189					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTGGAGAAAGTACAGTTCTGT	0.323000													32	109					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388941	20388941	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:20388941T>C	ENST00000315915.4	+	1	201	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTCCCCTATGTACTTTCTC	0.408000													53	174					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73602031	73602031	+	Silent	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:73602031T>G	ENST00000265753.8	+	2	289	c.150T>G	c.(148-150)ccT>ccG	p.P50P	EIF4H_ENST00000353999.6_Silent_p.P50P|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	50	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GAAATCTACCTTTCAATACGG	0.512000													50	122					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76901828	76901828	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:76901828G>T	ENST00000409709.3	+	30	4109	c.3837G>T	c.(3835-3837)acG>acT	p.T1279T	MYO7A_ENST00000409619.2_Silent_p.T1268T|MYO7A_ENST00000458637.2_Silent_p.T1279T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1279	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGGCAACCACGGCCAAGGAGC	0.592000													5	6					5.9392e-07	6.20061e-07	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120856901	120856901	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:120856901C>T	ENST00000527524.2	+	21	3090	c.2803C>T	c.(2803-2805)Ccg>Tcg	p.P935S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P935S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	935					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCGGGCACGGCCGTCGCCCGC	0.746000													7	3					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295691	56295691	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:56295691C>G	ENST00000408946.2	-	3	731	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.E193Q	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	194	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AACTCCTCTTCTAGCGCCCTC	0.577000													47	289					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005452	74005452	+	Missense_Mutation	SNP	G	G	C	rs138831181		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:74005452G>C	ENST00000301607.3	-	22	4087	c.3834C>G	c.(3832-3834)aaC>aaG	p.N1278K	EVPL_ENST00000586740.1_Missense_Mutation_p.N1300K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1278	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.N1278N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGACGAGCTCGTTGAGCTGAG	0.662000													24	67					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494982	161494982	+	Silent	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:161494982C>A	ENST00000309758.4	+	1	947	c.534C>A	c.(532-534)ccC>ccA	p.P178P	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	178			P -> A (in dbSNP:rs41297710).		response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAATGAGCCCACGGCAGCTG	0.647000													14	83					3.27435e-08	3.44271e-08	1	1	0
MAP2	4133	broad.mit.edu	37	2	210559922	210559922	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:210559922G>T	ENST00000360351.4	+	7	3534	c.3028G>T	c.(3028-3030)Gca>Tca	p.A1010S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1006S|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1010					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCAACAGATGCATCCTCTGA	0.438000													43	49					1.03325e-14	1.12219e-14	1	1	0
TLE2	7089	broad.mit.edu	37	19	3009614	3009614	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:3009614C>T	ENST00000262953.6	-	13	1361	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.V245M|TLE2_ENST00000590536.1_Missense_Mutation_p.V368M|TLE2_ENST00000591529.1_Missense_Mutation_p.V381M|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.V381M|TLE2_ENST00000443826.3_Missense_Mutation_p.V245M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	367	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTGGGCACGGAGAGGTCT	0.657000													17	12					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038021	37038021	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:37038021C>A	ENST00000334116.7	-	6	1734	c.1124G>T	c.(1123-1125)tGt>tTt	p.C375F	ZNF529_ENST00000591340.1_Missense_Mutation_p.C480F	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACATACCTTACATTCATAAGG	0.393000													35	32					4.3181e-19	4.82228e-19	1	1	0
NDNL2	56160	broad.mit.edu	37	15	29561810	29561810	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:29561810C>T	ENST00000332303.4	-	1	223	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	34					regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGGCGTCTTCCCCGGCCCGC	0.726000													7	3					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661644	77661644	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:77661644A>G	ENST00000296043.6	+	5	3271	c.2318A>G	c.(2317-2319)cAg>cGg	p.Q773R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	773					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGGGCTTTCAGTACGGGAAG	0.672000													16	25					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62273518	62273518	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:62273518G>C	ENST00000370053.1	-	4	507	c.426C>G	c.(424-426)ctC>ctG	p.L142L	STMN3_ENST00000540534.1_Silent_p.L131L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	142					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCTCCTTGCTGAGCTCCATCT	0.697000													7	20					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74272446	74272446	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:74272446G>T	ENST00000295897.4	+	3	327	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	ALB_ENST00000509063.1_Missense_Mutation_p.D80Y|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_5'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	80	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATGTGTTGCTGATGAGTCAGC	0.348000													8	40					0.000157383	0.000159809	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29599201	29599201	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29599201G>A	ENST00000431530.3	+	1	454	c.396G>A	c.(394-396)caG>caA	p.Q132Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	122						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATAGCCTGCAGACCACGCGGA	0.502000													42	113					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992584	85992584	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:85992584C>T	ENST00000372105.3	-	4	992	c.971G>A	c.(970-972)gGa>gAa	p.G324E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	324	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GATGTAGTCTCCGGAGTCAAG	0.562000													30	25					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65888045	65888045	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:65888045C>T	ENST00000321892.4	+	7	2389	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	BPTF_ENST00000306378.6_Silent_p.I650I|BPTF_ENST00000424123.3_Silent_p.I637I|BPTF_ENST00000335221.5_Silent_p.I776I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	776					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAACTCGAATCATCACCAGAT	0.468000													23	16					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60782869	60782869	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:60782869C>T	ENST00000544856.2	-	11	2777	c.2399G>A	c.(2398-2400)tGa>tAa	p.*800*	MARCH10_ENST00000456609.2_Intron|MARCH10_ENST00000583600.1_Intron|MARCH10_ENST00000311269.5_Intron|RP11-156L14.1_ENST00000584597.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	0							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAACACCCTCAAAATGGCAG	0.433000													29	33					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134143524	134143524	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:134143524C>G	ENST00000452510.2	+	16	2199	c.2041C>G	c.(2041-2043)Cga>Gga	p.R681G	DDX46_ENST00000354283.4_Missense_Mutation_p.R681G	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	681	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTTGCTGCCCGAGGTCTAGA	0.428000													25	71					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88383143	88383143	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:88383143C>T	ENST00000298699.2	-	8	778	c.598G>A	c.(598-600)Gac>Aac	p.D200N	C12orf50_ENST00000550553.1_Missense_Mutation_p.D200N	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	200										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ACATAACAGTCACCTCCTATG	0.363000													16	61					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542444	12542444	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:12542444A>G	ENST00000301547.5	-	4	739	c.542T>C	c.(541-543)tTg>tCg	p.L181S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	181					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAGGTTTCCCAAAGAACTGAA	0.408000													85	94					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054136	46054136	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:46054136C>T	ENST00000536708.2	+	9	1041	c.932C>T	c.(931-933)tCt>tTt	p.S311F	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.S286F	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	286					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCTGGCATCTCTGCCGAGGCT	0.522000													24	40					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10353718	10353718	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:10353718C>T	ENST00000397117.1	-	5	930	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SEC13_ENST00000350697.3_Silent_p.G127G|SEC13_ENST00000383801.2_Silent_p.G173G|SEC13_ENST00000337354.4_Silent_p.G130G|SEC13_ENST00000397109.3_Silent_p.G113G			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	127					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGAGATGGCCCCATCCGAGC	0.597000													28	15					0	0	1	0	0
CD9	928	broad.mit.edu	37	12	6344731	6344731	+	Splice_Site	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:6344731G>A	ENST00000382518.1	+	7	973	c.537G>A	c.(535-537)aaG>aaA	p.K179K	CD9_ENST00000009180.4_Splice_Site_p.K179K|CD9_ENST00000382515.2_Splice_Site_p.K110K|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	179					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TCACCGTGAAGGTAAACTCAG	0.537000													25	7					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583390	24583390	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:24583390A>G	ENST00000319715.4	+	18	5435	c.5003A>G	c.(5002-5004)aAa>aGa	p.K1668R	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1634R|RBBP6_ENST00000381039.3_Missense_Mutation_p.K828R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1668					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTGAAAGATAAAATAGTGGAG	0.458000													58	46					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113618421	113618421	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:113618421A>G	ENST00000200135.3	-	9	1248	c.1104T>C	c.(1102-1104)acT>acC	p.T368T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	368					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAAATTCTTCAGTGGACTGTA	0.274000													69	105					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803352	23803352	+	Splice_Site	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:23803352C>A	ENST00000264867.2	-	12	2413		c.e12+1		PPARGC1A_ENST00000509702.1_Splice_Site	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAATCCATACCTAGGTCTGC	0.403000													15	36					2.48551e-13	2.67983e-13	1	1	0
ACTR3	10096	broad.mit.edu	37	2	114674550	114674550	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:114674550G>T	ENST00000263238.2	+	3	510	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	ACTR3_ENST00000535589.2_Missense_Mutation_p.D13Y|ACTR3_ENST00000536059.1_Intron	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	64					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CTTCATTGGTGATGAAGCAAT	0.343000													24	9					6.32553e-13	6.79536e-13	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81536974	81536974	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:81536974C>T	ENST00000548058.1	+	5	1779	c.869C>T	c.(868-870)tCa>tTa	p.S290L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S289L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	290						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTGTTCTTTCAGAACACCCA	0.453000													36	61					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3968022	3968022	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:3968022T>A	ENST00000381638.2	-	29	4475	c.4351A>T	c.(4351-4353)Agt>Tgt	p.S1451C		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1451							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGGAGATGACTGGTTTCATCA	0.483000													4	89					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9334658	9334658	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:9334658T>C	ENST00000261336.2	-	14	1630	c.1602A>G	c.(1600-1602)gcA>gcG	p.A534A	PZP_ENST00000381997.2_Silent_p.A403A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAACATTCGTGCAATGGGGG	0.428000													21	30					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24358114	24358114	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:24358114G>A	ENST00000274766.1	+	1	984	c.247G>A	c.(247-249)Gag>Aag	p.E83K	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	83					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						ACAGGTGAAAGAGAAGTAACG	0.622000													17	48					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447703	24447703	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:24447703G>T	ENST00000270800.1	-	7	1355	c.1317C>A	c.(1315-1317)agC>agA	p.S439R		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	439						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTAACATGCAGCTTCCAGCTG	0.527000													31	28					7.16026e-08	7.50183e-08	1	1	0
NACC1	112939	broad.mit.edu	37	19	13246121	13246121	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:13246121G>A	ENST00000292431.4	+	2	226	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	34	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGACGTGTCAGTGGTGGTCAA	0.617000													16	48					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100127921	100127921	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:100127921T>C	ENST00000263174.4	+	2	467	c.92T>C	c.(91-93)aTa>aCa	p.I31T	PALMD_ENST00000605497.1_Missense_Mutation_p.I31T	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	31					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CGTCTGAAAATAGAGGAAGAC	0.259000													32	66					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386804	29386804	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:29386804C>T	ENST00000320081.5	+	13	1897	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S	CLIP4_ENST00000404424.1_Missense_Mutation_p.P548S|CLIP4_ENST00000401605.1_Missense_Mutation_p.P548S|CLIP4_ENST00000401617.2_Missense_Mutation_p.P441S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	548										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTTGCTCCCCCATCCAGGGT	0.363000													15	49					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2826824	2826824	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:2826824T>C	ENST00000381154.1	-	9	1433	c.1358A>G	c.(1357-1359)cAt>cGt	p.H453R		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	453						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGAACTCATGTGCCGAGCG	0.567000													10	3					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801852	9801852	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:9801852A>G	ENST00000457674.2	-	5	845	c.327T>C	c.(325-327)aaT>aaC	p.N109N	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	109	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTTCCCTCCATTCTGAGCTC	0.423000													51	46					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110758661	110758661	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:110758661A>T	ENST00000317735.4	+	5	654	c.620A>T	c.(619-621)tAc>tTc	p.Y207F		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	207					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GTGATGTTTTACTGCTATTAC	0.388000													21	32					0	0	1	0	0
FAM206A	54942	broad.mit.edu	37	9	111701853	111701853	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:111701853G>A	ENST00000322940.6	+	6	739	c.433G>A	c.(433-435)Gtt>Att	p.V145I	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	CI006_HUMAN	family with sequence similarity 206, member A	145					glycine catabolic process	glycine cleavage complex											CTACATTGCAGTTGTGTTACC	0.353000													47	21					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666910	11666910	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:11666910C>G	ENST00000262442.4	+	36	7217	c.7149C>G	c.(7147-7149)ggC>ggG	p.G2383G	DNAH9_ENST00000454412.2_Silent_p.G2383G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTTTCGGCGGAGCAATGG	0.463000													9	22					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72130928	72130928	+	Splice_Site	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:72130928T>C	ENST00000265381.4	-	2	1421	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	400	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCTACTTACATCTCCGTCCAT	0.627000													38	30					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175752	71175752	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:71175752C>G	ENST00000333538.5	+	10	2141	c.1507C>G	c.(1507-1509)Cgc>Ggc	p.R503G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	503	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACAGCTTGCCCGCTACACCAA	0.622000													11	24					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85930490	85930490	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:85930490A>G	ENST00000284031.8	-	1	333	c.239T>C	c.(238-240)gTg>gCg	p.V80A	DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.V80A|DDAH1_ENST00000483110.1_Intron	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	80					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CACCACGGCCACGTCCTCCAC	0.726000													7	6					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958725	53958725	+	RNA	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:53958725G>A	ENST00000454407.1	+	0	1417							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATTCATACTGAAGAGAAACC	0.373000													38	154					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640703	29640703	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:29640703C>G	ENST00000376883.1	-	6	1536	c.1125G>C	c.(1123-1125)aaG>aaC	p.K375N	ZFP57_ENST00000376881.3_Missense_Mutation_p.K375N|ZFP57_ENST00000488757.1_Missense_Mutation_p.K395N			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	311					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GATAGGATTTCTTGCTAAAAG	0.502000													124	154					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137278656	137278656	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:137278656C>T	ENST00000033079.3	-	21	2881	c.2430G>A	c.(2428-2430)caG>caA	p.Q810Q	FAM13B_ENST00000420893.2_Silent_p.Q782Q|FAM13B_ENST00000425075.2_Silent_p.Q686Q	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	810					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						CTAATGAAGACTGTACCTGTA	0.373000													61	42					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878254	5878254	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:5878254G>A	ENST00000537935.1	-	1	710	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATACAGGATCCTGACA	0.458000													5	70					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30190507	30190507	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:30190507T>A	ENST00000261708.4	-	19	1802	c.1665A>T	c.(1663-1665)gaA>gaT	p.E555D		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	555					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GGTGGTTCAATTCTTCTTTCA	0.368000													28	80					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35614625	35614625	+	Splice_Site	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:35614625G>A	ENST00000353139.5	-	14	2307	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	ACACA_ENST00000335166.5_Splice_Site_p.S494L|ACACA_ENST00000360679.3_Splice_Site_p.S514L|ACACA_ENST00000394406.2_Splice_Site_p.S572L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	572	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTATACTCACGAAATTGCCTC	0.388000													12	41					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602347	138602347	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:138602347A>G	ENST00000440172.1	-	2	2073	c.2025T>C	c.(2023-2025)tcT>tcC	p.S675S	KIAA1549_ENST00000422774.1_Silent_p.S675S|KIAA1549_ENST00000242365.4_Silent_p.S625S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	675	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCAGATCACTAGAGTCAAACA	0.483000			O	BRAF	pilocytic astrocytoma								20	33					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114243458	114243458	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:114243458G>A	ENST00000369604.1	-	16	2487	c.2004C>T	c.(2002-2004)acC>acT	p.T668T	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Silent_p.T615T|PHTF1_ENST00000369600.1_Silent_p.T615T|PHTF1_ENST00000393357.2_Silent_p.T668T|PHTF1_ENST00000369598.1_Silent_p.T623T			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCTTATTGGTTTCAGACC	0.378000													39	77					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179257144	179257144	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:179257144A>T	ENST00000190611.4	+	23	2828	c.2452A>T	c.(2452-2454)Atg>Ttg	p.M818L	OSBPL6_ENST00000315022.2_Missense_Mutation_p.M822L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.M787L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.M782L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.M782L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.M843L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	818					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCCAGGTTCCATGCCAACAAA	0.448000													39	28					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732141	100732141	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:100732141C>T	ENST00000306085.6	+	3	1845	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	516					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGTCCCTTCGGTCCCCGGG	0.652000													83	41					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142487421	142487421	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:142487421C>G	ENST00000367630.4	+	2	227	c.169C>G	c.(169-171)Cgc>Ggc	p.R57G	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	57	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCCTGAATGTCGCAAATTTTT	0.299000													6	133					0	0	1	0	0
PQBP1	10084	broad.mit.edu	37	X	48759277	48759277	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:48759277G>C	ENST00000218224.4	+	3	504	c.250G>C	c.(250-252)Gtg>Ctg	p.V84L	PQBP1_ENST00000376563.1_Missense_Mutation_p.V84L|PQBP1_ENST00000247140.4_Missense_Mutation_p.V84L|PQBP1_ENST00000396763.1_Missense_Mutation_p.V84L|PQBP1_ENST00000447146.2_Missense_Mutation_p.V84L|PQBP1_ENST00000376566.4_Missense_Mutation_p.V84L|PQBP1_ENST00000473764.1_3'UTR	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CCCCAACTCCGTGGTTACCAA	0.552000													23	30					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43664309	43664309	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:43664309T>C	ENST00000372492.4	+	8	1744	c.1420T>C	c.(1420-1422)Tgc>Cgc	p.C474R	WDR65_ENST00000528956.1_Missense_Mutation_p.C474R	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	474										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTTAGAGGATGCGGAGAGGT	0.413000													19	50					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10413597	10413597	+	Missense_Mutation	SNP	C	C	T	rs144118750	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:10413597C>T	ENST00000397077.1	-	11	1995	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	ATP2B2_ENST00000360273.2_Missense_Mutation_p.V519I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V505I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V519I|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V474I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	519					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTATAGTGGACGTCGCCGACA	0.557000													95	80					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204926826	204926826	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:204926826A>G	ENST00000367172.4	+	8	906	c.578A>G	c.(577-579)cAt>cGt	p.H193R	NFASC_ENST00000404076.1_Missense_Mutation_p.H187R|NFASC_ENST00000401399.1_Missense_Mutation_p.H193R|NFASC_ENST00000404907.1_Missense_Mutation_p.H187R|NFASC_ENST00000339876.6_Missense_Mutation_p.H193R|NFASC_ENST00000403080.1_Missense_Mutation_p.H193R|NFASC_ENST00000367170.4_Missense_Mutation_p.H193R|NFASC_ENST00000338586.6_Missense_Mutation_p.H193R|NFASC_ENST00000338515.6_Missense_Mutation_p.H193R|NFASC_ENST00000539706.1_Missense_Mutation_p.H187R|NFASC_ENST00000513543.1_Missense_Mutation_p.H187R|NFASC_ENST00000367169.4_Missense_Mutation_p.H193R|NFASC_ENST00000367171.4_Missense_Mutation_p.H193R|NFASC_ENST00000360049.4_Missense_Mutation_p.H187R			O94856	NFASC_HUMAN	neurofascin	193	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTCAGGGCCATAACGGAGAC	0.507000													44	41					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826168	56826168	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:56826168A>G	ENST00000229201.4	-	7	823	c.669T>C	c.(667-669)ctT>ctC	p.L223L	TIMELESS_ENST00000554616.1_Silent_p.L224L|TIMELESS_ENST00000553532.1_Silent_p.L224L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	224					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACGAAACATAAGGGAGACAA	0.552000													41	74					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147475458	147475458	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:147475458G>C	ENST00000359874.3	+	10	945	c.872G>C	c.(871-873)aGa>aCa	p.R291T	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Missense_Mutation_p.R291T|SPINK5_ENST00000398454.1_Missense_Mutation_p.R291T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	291	Kazal-like 5.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTTAAAAGAGAAATTGTG	0.363000													4	107					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097363	110097363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:110097363G>T	ENST00000355943.3	+	8	1264	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.E167*|SLC25A46_ENST00000447245.2_Nonsense_Mutation_p.E299*|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.E289*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.E218*|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.E234*	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	380					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AAGGCAGGAGGAAGGAGTGTT	0.368000													35	34					1.22384e-17	1.35651e-17	1	1	0
EZH1	2145	broad.mit.edu	37	17	40870491	40870491	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:40870491T>C	ENST00000428826.2	-	9	1033	c.912A>G	c.(910-912)aaA>aaG	p.K304K	EZH1_ENST00000585893.1_Silent_p.K264K|EZH1_ENST00000415827.2_Silent_p.K295K|EZH1_ENST00000590078.1_Silent_p.K234K|EZH1_ENST00000435174.1_Silent_p.K165K|EZH1_ENST00000592743.1_Silent_p.K304K			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	304					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AGCAGTCGTATTTAAAGCAGC	0.522000													27	24					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779360	56779360	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:56779360C>T	ENST00000413728.2	-	7	1304	c.761G>A	c.(760-762)cGc>cAc	p.R254H	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R254H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R280H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R248H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R248H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R219H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	248	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATCTAGTTTGCGGCTAAAGGG	0.468000													5	277					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150784083	150784083	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:150784083C>T	ENST00000397238.2	+	1	255	c.255C>T	c.(253-255)gcC>gcT	p.A85A	AGAP3_ENST00000479901.1_Silent_p.A85A|AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000473312.1_Silent_p.A85A	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	49	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATATCTACGCCATCTACGACC	0.667000													10	23					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18872411	18872411	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:18872411G>T	ENST00000317977.6	+	6	903	c.332G>T	c.(331-333)tGg>tTg	p.W111L	SLC5A10_ENST00000395647.2_Missense_Mutation_p.W167L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.W167L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.W111L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.W167L|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Missense_Mutation_p.W167L	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	167					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCCTGGGCTGGAACTTCTAC	0.617000													18	21					1.55795e-14	1.68896e-14	1	1	0
ELF4	2000	broad.mit.edu	37	X	129203614	129203614	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:129203614C>G	ENST00000308167.5	-	8	1227	c.848G>C	c.(847-849)gGg>gCg	p.G283A	ELF4_ENST00000335997.7_Missense_Mutation_p.G283A	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	283					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGCCTCTGCCCTTCCACTTT	0.567000			T	ERG	AML								77	10					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169754	49169754	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:49169754G>A	ENST00000307885.4	-	8	2492	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R600C|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R600C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	600					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCATCTGGCGGAAGGCCTTG	0.607000													3	19					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107799330	107799330	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:107799330C>G	ENST00000320578.2	+	1	102	c.36C>G	c.(34-36)atC>atG	p.I12M		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	12					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										TCCGCCTCATCGTGATCGGGG	0.716000													8	16					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36228911	36228911	+	Silent	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:36228911T>A	ENST00000251195.5	-	4	690	c.594A>T	c.(592-594)gtA>gtT	p.V198V	CLSPN_ENST00000318121.3_Silent_p.V198V|CLSPN_ENST00000520551.1_Silent_p.V198V|CLSPN_ENST00000373220.3_Silent_p.V198V			Q9HAW4	CLSPN_HUMAN	claspin	198					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGCTGTTCTACATCATCTT	0.353000													53	143					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599285	29599285	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:29599285G>T	ENST00000431530.3	+	1	538	c.480G>T	c.(478-480)agG>agT	p.R160S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	150						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGCTAAAAGGGATGCTGAAA	0.507000													43	126					5.20006e-24	5.86243e-24	1	1	0
TCF25	22980	broad.mit.edu	37	16	89973698	89973698	+	Silent	SNP	G	G	C	rs144798392		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:89973698G>C	ENST00000263346.8	+	16	1823	c.1767G>C	c.(1765-1767)tcG>tcC	p.S589S	TCF25_ENST00000263347.7_Silent_p.S354S|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	589					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGCCTCCTTCGGACACAATCT	0.582000													76	297					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74447995	74447995	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:74447995T>C	ENST00000307439.5	-	7	874	c.580A>G	c.(580-582)Att>Gtt	p.I194V	RASSF6_ENST00000395777.2_Intron|RASSF6_ENST00000342081.3_Missense_Mutation_p.I226V|RASSF6_ENST00000335049.5_Missense_Mutation_p.I182V	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	226					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAGGCTGGAATGAAAATTGAT	0.284000													14	41					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32829610	32829610	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:32829610A>T	ENST00000373534.3	+	2	1065	c.560A>T	c.(559-561)gAt>gTt	p.D187V	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	187	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ATTCCCCACGATAGCAAAAAA	0.567000													14	79					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211630	38211630	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:38211630C>T	ENST00000379705.3	-	11	3201	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	TRPC4_ENST00000379681.3_Missense_Mutation_p.D787N|TRPC4_ENST00000379679.1_Missense_Mutation_p.D609N|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.D717N|TRPC4_ENST00000338947.5_Missense_Mutation_p.D609N|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.D782N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	782	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTCGCTATCACTCTTTTCA	0.418000													22	120					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	334498	334498	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:334498C>T	ENST00000219406.6	+	2	329	c.311C>T	c.(310-312)gCg>gTg	p.A104V	PDIA2_ENST00000404312.1_Missense_Mutation_p.A104V	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	104	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GATGGGCCCGCGCAGCGCGAG	0.657000													5	6					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674846	167674846	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:167674846G>A	ENST00000519204.1	+	26	6657	c.6539G>A	c.(6538-6540)cGc>cAc	p.R2180H	TENM2_ENST00000518659.1_Missense_Mutation_p.R2301H|TENM2_ENST00000520394.1_Missense_Mutation_p.R2062H|TENM2_ENST00000545108.1_Missense_Mutation_p.R2300H|TENM2_ENST00000403607.2_Missense_Mutation_p.R2125H					teneurin transmembrane protein 2																		GTCCAGTACCGCTATGATGGC	0.567000													85	20					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55072931	55072931	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:55072931G>A	ENST00000371316.3	+	14	1577	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.D499N	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	499	START.				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						GAAGCCTTGTGACAATGGGTG	0.632000													5	31					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102319577	102319577	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:102319577A>G	ENST00000398136.2	-	2	543	c.123T>C	c.(121-123)tcT>tcC	p.S41S	TMEM123_ENST00000361236.3_Intron|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000525577.1_5'UTR	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	41					oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTGGAAGCCCAGAATTCTCTA	0.343000													94	143					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30363766	30363766	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:30363766C>G	ENST00000340513.4	+	8	1233	c.705C>G	c.(703-705)ttC>ttG	p.F235L	TPX2_ENST00000300403.6_Missense_Mutation_p.F235L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	235					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATGAAGAATTCAAGAAACTTG	0.418000													8	92					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677903	74677903	+	Splice_Site	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:74677903C>T	ENST00000380494.5	-	16	2166		c.e16-1		COL4A3BP_ENST00000508692.1_Splice_Site|COL4A3BP_ENST00000405807.4_Splice_Site|COL4A3BP_ENST00000261415.7_Splice_Site	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GCCACACCCTCTGTGGAGAAG	0.368000													13	61					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43118020	43118020	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr20:43118020A>G	ENST00000372904.3	+	6	1010	c.867A>G	c.(865-867)gtA>gtG	p.V289V	TTPAL_ENST00000262605.4_Silent_p.V289V|TTPAL_ENST00000372906.2_3'UTR	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	289						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GGAACGCGGTACTGCTGGCTT	0.582000													18	78					0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41639164	41639164	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:41639164C>G	ENST00000379487.3	+	3	488	c.88C>G	c.(88-90)Cat>Gat	p.H30D	WBP4_ENST00000542082.1_Intron	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	30					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGTTGAATTTCATGAAAGAGG	0.269000													24	68					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	21					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47782502	47782502	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:47782502T>C	ENST00000240333.6	-	5	633	c.512A>G	c.(511-513)tAt>tGt	p.Y171C	SLC35B1_ENST00000415270.2_Missense_Mutation_p.Y208C			P78383	S35B1_HUMAN	solute carrier family 35, member B1	171						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						TAGCTCTCCATAGCCGACTGT	0.478000													24	82					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557484	62557484	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:62557484G>A	ENST00000333449.4	+	5	630	c.625G>A	c.(625-627)Gat>Aat	p.D209N	TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	209						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CTCTGAGACAGATGCTCTCGT	0.592000													13	94					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532994	22532994	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:22532994G>C	ENST00000404369.4	-	3	961	c.546C>G	c.(544-546)taC>taG	p.Y182*	STEAP1B_ENST00000406890.2_Nonsense_Mutation_p.Y163*	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	163						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GCCTCATTGCGTAAGACAGAG	0.388000													14	44					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90628086	90628086	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:90628086C>A	ENST00000330062.3	-	10	1346	c.1233G>T	c.(1231-1233)atG>atT	p.M411I	IDH2_ENST00000539790.1_Missense_Mutation_p.M281I|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.M359I	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	411					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GGTCCTTGGTCATGGCTCCAC	0.637000			M		GBM								23	141					6.32553e-13	6.79536e-13	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740854	140740854	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:140740854C>T	ENST00000522605.1	+	1	1152	c.1152C>T	c.(1150-1152)tgC>tgT	p.C384C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTTTACTGCCAAGTGTTGG	0.463000													24	71					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373838	11373838	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:11373838A>T	ENST00000528848.2	-	1	1066	c.829T>A	c.(829-831)Tct>Act	p.S277T	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CGCTTTCGAGAGTGTCTGCCC	0.448000													29	53					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725972	238725972	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:238725972T>C	ENST00000316997.4	+	3	545	c.413T>C	c.(412-414)gTg>gCg	p.V138A	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.V138A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	137							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATCCTGAAGTGCAGAAAAAA	0.303000													14	8					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145536044	145536044	+	Silent	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:145536044T>G	ENST00000369304.3	+	17	2311	c.2136T>G	c.(2134-2136)cgT>cgG	p.R712R	ITGA10_ENST00000539363.1_Silent_p.R569R|ITGA10_ENST00000538811.1_Silent_p.R581R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	712					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGGGCACGTGCAGCATTTG	0.557000													31	165					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105965786	105965786	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:105965786T>C	ENST00000357060.3	-	7	1013	c.898A>G	c.(898-900)Aga>Gga	p.R300G	WDR96_ENST00000278064.2_Missense_Mutation_p.R231G|WDR96_ENST00000369720.1_Missense_Mutation_p.R231G|WDR96_ENST00000369719.1_Missense_Mutation_p.R231G|WDR96_ENST00000428666.1_Missense_Mutation_p.R301G	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	300										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAATTTCTTCTGTCTTCTGGA	0.308000													47	30					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209954732	209954732	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:209954732T>C	ENST00000367024.1	+	16	2008	c.1492T>C	c.(1492-1494)Tat>Cat	p.Y498H	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.Y478H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.Y478H|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.Y498H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	498						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGTGACGAGTATCTCTCCTG	0.532000													73	16					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167655096	167655096	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:167655096G>C	ENST00000519204.1	+	24	5236	c.5118G>C	c.(5116-5118)caG>caC	p.Q1706H	TENM2_ENST00000518659.1_Missense_Mutation_p.Q1827H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q1588H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q1826H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q1651H					teneurin transmembrane protein 2																		GAAAGGAACAGATTAAAGGCA	0.517000													6	33					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38369918	38369918	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:38369918C>G	ENST00000358138.1	-	3	683	c.659G>C	c.(658-660)tGt>tCt	p.C220S	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	220										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						aacttcagcacacaccagaat	0.537000													15	287					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116621286	116621286	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:116621286C>G	ENST00000369248.4	+	17	2620	c.2285C>G	c.(2284-2286)tCc>tGc	p.S762C	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	762										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TATCATGCTTCCTCCACACCA	0.428000													15	43					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85779682	85779682	+	Silent	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:85779682T>C	ENST00000233838.4	-	10	1376	c.1296A>G	c.(1294-1296)acA>acG	p.T432T	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.T375T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCGACTCTGTGTAAATACCT	0.507000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	124					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185528	71185528	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:71185528A>G	ENST00000234396.4	+	4	412	c.339A>G	c.(337-339)ctA>ctG	p.L113L	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.L113L	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	113					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGGACATCCTACGAACTCCGG	0.587000													35	53					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201151	170201151	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:170201151G>A	ENST00000231706.5	-	6	1382	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTCGGCATCGGGAAGAGGGA	0.542000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	95					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586686	53586686	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:53586686G>T	ENST00000267082.5	-	13	1966	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.R579S	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	579	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATTGGCAGCGACCAAAGCCT	0.562000													19	17					3.51602e-12	3.77034e-12	1	1	0
GPSM1	26086	broad.mit.edu	37	9	139232303	139232303	+	Splice_Site	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:139232303C>T	ENST00000440944.1	+	6	923	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	GPSM1_ENST00000392945.3_Splice_Site_p.R235C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	235	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GTCTCCGCAGCGCCTGGCCAT	0.687000													9	16					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112403814	112403814	+	Silent	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:112403814C>G	ENST00000302475.4	-	11	1985	c.1422G>C	c.(1420-1422)ctG>ctC	p.L474L	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L664L|MCC_ENST00000515367.2_Silent_p.L411L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	474					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAACTGCCCCAGGATGAGGC	0.622000													4	40					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151142828	151142828	+	Splice_Site	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:151142828G>T	ENST00000296550.7	+	7	1886		c.e7-1		DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTTTTTGCAGGTGTGAATGG	0.323000													29	24					7.68411e-24	8.64645e-24	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44799028	44799028	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:44799028C>G	ENST00000309315.4	+	7	1085	c.962C>G	c.(961-963)tCc>tGc	p.S321C	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S289C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S289C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S321C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S321C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	321	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGTCCCTGTCCGTGCCTGGC	0.701000													18	39					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186971030	186971030	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:186971030T>C	ENST00000337774.5	-	6	1207	c.818A>G	c.(817-819)cAc>cGc	p.H273R	MASP1_ENST00000169293.6_Missense_Mutation_p.H273R|MASP1_ENST00000296280.6_Missense_Mutation_p.H273R|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.H247R|MASP1_ENST00000392472.2_Missense_Mutation_p.H160R	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	273	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGACACTGTGGCTCTGGGT	0.532000													111	224					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38048127	38048127	+	Missense_Mutation	SNP	G	G	A	rs147292695		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:38048127G>A	ENST00000283713.6	+	19	2659	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	VILL_ENST00000383759.2_Missense_Mutation_p.R798Q|VILL_ENST00000465644.1_Missense_Mutation_p.R516Q			O15195	VILL_HUMAN	villin-like	798	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGCCTGCGCCGGGAACAACTG	0.657000													4	62					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850869	3850869	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:3850869G>A	ENST00000380274.1	+	1	1250	c.824G>A	c.(823-825)cGc>cAc	p.R275H	FAM50B_ENST00000380272.3_Missense_Mutation_p.R275H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	275						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GATGACGTGCGCCTGCTCAGC	0.627000													21	47					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95278646	95278646	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:95278646T>C	ENST00000371485.3	+	7	1310	c.1006T>C	c.(1006-1008)Tac>Cac	p.Y336H	CEP55_ENST00000496302.1_3'UTR	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	336					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CCAGTTTCTTTACACATCTCT	0.448000													44	25					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	79					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725845	156725845	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:156725845G>A	ENST00000264424.8	+	12	1737	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R527Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R574Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R532Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R484Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R519Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R484Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	552	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTCACAAGCCGAACAGAAACC	0.398000													14	34					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50191118	50191118	+	Silent	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:50191118T>A	ENST00000335999.6	-	8	726	c.525A>T	c.(523-525)ccA>ccT	p.P175P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	171	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CATCCAGCGCTGGGGGTGGGG	0.627000													19	11					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337355	13337355	+	Silent	SNP	A	A	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:13337355A>C	ENST00000380622.2	-	1	1163	c.699T>G	c.(697-699)ctT>ctG	p.L233L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	233					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGCTTAGTTCAAGGGCCCTCT	0.423000													30	99					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116980037	116980037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:116980037G>A	ENST00000368576.3	-	4	964	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Nonsense_Mutation_p.Q241*	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	241						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TCTTCTTGCTGAAGCTGGTGA	0.348000													25	20					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100153956	100153956	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr13:100153956G>A	ENST00000376387.4	+	1	286	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport	endosome membrane|integral to plasma membrane		p.R32R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCCCGCGCCGGAGCGGCGCTT	0.667000													62	21					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732137	30732137	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:30732137G>C	ENST00000262518.4	+	20	3476	c.3091G>C	c.(3091-3093)Gag>Cag	p.E1031Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.E1031Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E1031Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1031	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCAGGTCCTGAGCTCTCAGC	0.652000													22	98					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46141790	46141790	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:46141790G>A	ENST00000536630.1	-	6	731	c.593C>T	c.(592-594)cCt>cTt	p.P198L	EML2_ENST00000587152.1_Missense_Mutation_p.P252L|EML2_ENST00000589876.1_Missense_Mutation_p.P51L|EML2_ENST00000245925.3_Missense_Mutation_p.P51L	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	51					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCGGCAAGAAGGCAGCTCCGA	0.597000													25	61					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201824305	201824305	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:201824305C>A	ENST00000361565.4	+	9	1034	c.965C>A	c.(964-966)tCt>tAt	p.S322Y		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	322					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGTGGATTCTGATGGTATG	0.363000													35	21					4.14481e-20	4.63749e-20	1	1	0
KIAA0355	9710	broad.mit.edu	37	19	34818935	34818935	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:34818935G>A	ENST00000299505.6	+	6	1856	c.983G>A	c.(982-984)aGg>aAg	p.R328K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	328										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACGGGGCGGAGGCAGACACCC	0.617000													59	84					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019756	131019756	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:131019756G>A	ENST00000421699.2	-	25	2698	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R884C	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	896						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CACTCGTTGCGGTCGCCCACA	0.657000													14	32					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27255210	27255210	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:27255210G>T	ENST00000397501.1	+	7	917	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	PTK2B_ENST00000338238.4_Missense_Mutation_p.D37Y|PTK2B_ENST00000544172.1_Missense_Mutation_p.D37Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.D37Y|PTK2B_ENST00000420218.2_Missense_Mutation_p.D37Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.D37Y	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	37					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAAAAGGAGGACGTGCGTAT	0.542000													26	24					1.42536e-11	1.5257e-11	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24581389	24581389	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:24581389G>C	ENST00000319715.4	+	17	3810	c.3378G>C	c.(3376-3378)aaG>aaC	p.K1126N	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1092N|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1126	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAACAACTAAGGAAGAAAAGG	0.333000													29	24					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919027	52919027	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:52919027C>G	ENST00000360465.3	+	7	1348	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGTCTTCAATCAAATTGCACA	0.383000													20	87					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328889	152328889	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:152328889G>A	ENST00000388718.5	-	3	1445	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	458	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGATGTAGACTCATGCTG	0.502000													165	96					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505475	70505475	+	Splice_Site	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:70505475G>C	ENST00000310961.5	+	22	4287	c.3869G>C	c.(3868-3870)aGg>aCg	p.R1290T	LRRC7_ENST00000415775.2_Splice_Site_p.R569T|LRRC7_ENST00000035383.5_Splice_Site_p.R1285T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1285						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGGTTAGACAGGGTATGTCTG	0.448000													22	70					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26888488	26888488	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:26888488C>T	ENST00000308360.7	-	6	1003	c.628G>A	c.(628-630)Gag>Aag	p.E210K	PIGS_ENST00000395346.2_Missense_Mutation_p.E202K|PIGS_ENST00000543734.1_Missense_Mutation_p.E149K|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACTTGTCCTCTGGAAGGTGG	0.577000													12	45					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521058	39521058	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:39521058C>A	ENST00000251646.3	-	6	1119	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	357	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAGCAGGCTCCGGTATGTGTT	0.597000													9	231					1.12685e-05	1.1581e-05	1	1	0
PWWP2B	170394	broad.mit.edu	37	10	134219392	134219392	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:134219392A>G	ENST00000305233.5	+	2	1447	c.1388A>G	c.(1387-1389)cAa>cGa	p.Q463R	PWWP2B_ENST00000368609.4_Missense_Mutation_p.Q463R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	463										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAGGCTCGCCAAACGGTGCCG	0.697000													6	29					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132318	49132318	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:49132318G>A	ENST00000443164.1	+	5	2144	c.1439G>A	c.(1438-1440)cGt>cAt	p.R480H	SPHK2_ENST00000598088.1_Missense_Mutation_p.R418H|SPHK2_ENST00000599029.1_Missense_Mutation_p.R382H|SPHK2_ENST00000340932.3_Missense_Mutation_p.R380H|SPHK2_ENST00000245222.4_Missense_Mutation_p.R418H|SPHK2_ENST00000599748.1_Missense_Mutation_p.R382H|SPHK2_ENST00000600537.1_Missense_Mutation_p.R359H			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	418					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		cccctgcatcgttctgtgtct	0.692000													9	17					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137570248	137570248	+	Splice_Site	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:137570248C>T	ENST00000330387.6	-	9	1395	c.1044G>A	c.(1042-1044)agG>agA	p.R348R	CREB3L2_ENST00000456390.1_Splice_Site_p.R348R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	348	Leucine-zipper.				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGAGAGTCCTGCCAATGA	0.537000			T	FUS	fibromyxoid sarcoma								25	43					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752626	62752626	+	RNA	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:62752626C>G	ENST00000331425.6	-	0	809					NR_003952.1																						TGCTGAGGAGCGCCTAAAGGC	0.463000													5	68					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38959385	38959385	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:38959385A>G	ENST00000487273.2	+	21	2380	c.2302A>G	c.(2302-2304)Ata>Gta	p.I768V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	768				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTTTTAGCCTATATATGCAAA	0.318000													9	201					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	880117	880117	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:880117G>C	ENST00000327044.6	-	19	2256	c.2207C>G	c.(2206-2208)cCg>cGg	p.P736R		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	736	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCGTCCTCCGGCCCCTGGGC	0.657000													4	18					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390776	107390776	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:107390776T>G	ENST00000429433.2	-	5	2268	c.1619A>C	c.(1618-1620)gAg>gCg	p.E540A	BEND3_ENST00000369042.1_Missense_Mutation_p.E540A	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	540										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTGGGGGATCTCTAACTTGTC	0.617000													11	24					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43842929	43842929	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr18:43842929T>C	ENST00000282059.6	+	5	1434	c.1060T>C	c.(1060-1062)Tct>Cct	p.S354P	C18orf25_ENST00000321319.6_Missense_Mutation_p.S293P	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	354										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TCAGAGTGTTTCTTCATGGAA	0.483000													25	29					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337514	12337514	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:12337514C>G	ENST00000358136.3	+	19	3999	c.3869C>G	c.(3868-3870)tCt>tGt	p.S1290C	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1290C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1290					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGATGGCTTCTTTACATTAT	0.418000													12	226					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36025984	36025984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:36025984G>C	ENST00000373243.2	+	3	615	c.232G>C	c.(232-234)Gat>Cat	p.D78H	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.D78H|NCDN_ENST00000373253.3_Missense_Mutation_p.D61H	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	78					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGATCTTCGATGCTGTCGG	0.567000													14	230					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883513	145883513	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:145883513G>A	ENST00000296702.5	+	18	2712	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	TCERG1_ENST00000394421.2_Missense_Mutation_p.E871K|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	892					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGAGAGAGAGAGCAGCACAA	0.418000													69	40					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24771251	24771251	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:24771251G>T	ENST00000267425.3	+	4	982	c.889G>T	c.(889-891)Gct>Tct	p.A297S	NOP9_ENST00000396802.3_Missense_Mutation_p.A297S	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCAGTTTTGCGCTCATCTCTG	0.512000													13	286					0.00010058	0.000102481	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3089557	3089557	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr18:3089557C>T	ENST00000356443.4	-	28	4380	c.4047G>A	c.(4045-4047)cgG>cgA	p.R1349R	MYOM1_ENST00000261606.7_Silent_p.R1253R|MYOM1_ENST00000400569.3_Silent_p.R1349R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1349						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCATTCTTGCCGCTGGAATT	0.343000													3	45					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693374	100693374	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:100693374C>T	ENST00000259456.3	-	4	446	c.303G>A	c.(301-303)ctG>ctA	p.L101L		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	101					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTATAGGTGCCAGTGCTTTCT	0.448000													29	83					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572484	38572484	+	Silent	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:38572484G>A	ENST00000222345.6	+	3	788	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	93					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGAGGCCCTGAGAGAGCACA	0.677000													21	59					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89311874	89311874	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:89311874T>G	ENST00000371996.4	+	5	1144	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	MINPP1_ENST00000536010.1_Missense_Mutation_p.F167C|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Missense_Mutation_p.L291V	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	368					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		ATCCTCCAGTTTGGTCATGCA	0.373000													8	109					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111345493	111345493	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:111345493T>A	ENST00000441448.2	+	9	796	c.704T>A	c.(703-705)cTt>cAt	p.L235H		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	235						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TCGGATGACCTTTATAAATTA	0.383000													47	38					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168059825	168059825	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:168059825C>A	ENST00000367838.1	-	6	1494	c.1181G>T	c.(1180-1182)gGc>gTc	p.G394V	GPR161_ENST00000546300.1_Missense_Mutation_p.G280V|GPR161_ENST00000367835.1_Missense_Mutation_p.G394V|GPR161_ENST00000539777.1_Missense_Mutation_p.G316V|GPR161_ENST00000271357.5_Missense_Mutation_p.G394V|GPR161_ENST00000367836.1_Missense_Mutation_p.G262V|GPR161_ENST00000361697.2_Missense_Mutation_p.G394V|GPR161_ENST00000537209.1_Missense_Mutation_p.G414V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	394					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GCAGCTGAAGCCAGTGTCCCC	0.602000													6	49					2.0095e-06	2.08692e-06	1	1	0
FUCA2	2519	broad.mit.edu	37	6	143825324	143825324	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:143825324C>T	ENST00000002165.6	-	3	533	c.478G>A	c.(478-480)Gac>Aac	p.D160N	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGACAATGTCCCTCTTGGGC	0.443000													40	41					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577567	109577567	+	Silent	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:109577567G>T	ENST00000338432.7	+	2	476	c.357G>T	c.(355-357)ggG>ggT	p.G119G	ACACB_ENST00000377854.5_Silent_p.G119G|ACACB_ENST00000377848.3_Silent_p.G119G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGCCAACGGGACTGGGACAC	0.617000													92	90					3.3819e-59	3.88656e-59	1	1	0
PITX2	5308	broad.mit.edu	37	4	111539531	111539531	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:111539531G>C	ENST00000354925.2	-	7	2409	c.704C>G	c.(703-705)cCg>cGg	p.P235R	PITX2_ENST00000355080.5_Missense_Mutation_p.P189R|PITX2_ENST00000394595.3_Silent_p.P166P|PITX2_ENST00000306732.3_Missense_Mutation_p.P242R|PITX2_ENST00000394598.2_Missense_Mutation_p.P235R	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	235					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ACTGGAGCCCGGGACGCCTGT	0.592000													15	30					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124392875	124392875	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:124392875G>T	ENST00000287394.5	-	2	321	c.214C>A	c.(214-216)Cgt>Agt	p.R72S	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTAAAGCACGTGTCCGGTGG	0.353000													25	91					2.36697e-06	2.45387e-06	1	1	0
CD96	10225	broad.mit.edu	37	3	111263997	111263997	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:111263997A>G	ENST00000352690.4	+	2	406	c.166A>G	c.(166-168)Atg>Gtg	p.M56V	CD96_ENST00000283285.5_Missense_Mutation_p.M56V|CD96_ENST00000438817.2_Missense_Mutation_p.M56V	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	56	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTCGTGCAGATGCAATGGTC	0.458000									Opitz Trigonocephaly syndrome				77	157					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586117	53586117	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:53586117C>T	ENST00000267082.5	-	14	2383	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	ITGB7_ENST00000550743.2_Missense_Mutation_p.E570K|ITGB7_ENST00000338737.4_Missense_Mutation_p.E570K|ITGB7_ENST00000422257.3_Missense_Mutation_p.E718K	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	718					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACTTACTTTCTTGGGGTCTC	0.562000													4	95					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	198					0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184240734	184240734	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:184240734G>T	ENST00000323319.5	-	1	1193	c.638C>A	c.(637-639)aCg>aAg	p.T213K	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	213					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTGTTTCTCGTCTCCAGTTC	0.542000													17	245					3.41278e-10	3.62685e-10	1	1	0
SPTB	6710	broad.mit.edu	37	14	65249256	65249256	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr14:65249256T>A	ENST00000389722.3	-	19	4071	c.4018A>T	c.(4018-4020)Atg>Ttg	p.M1340L	SPTB_ENST00000389721.5_Missense_Mutation_p.M1340L|SPTB_ENST00000556626.1_Missense_Mutation_p.M1340L|SPTB_ENST00000389720.3_Missense_Mutation_p.M1340L|SPTB_ENST00000542895.1_Missense_Mutation_p.M1340L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1340					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCATCCATCAGCTGCTTT	0.587000													72	31					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84248994	84248994	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr9:84248994G>T	ENST00000376463.1	-	6	504	c.427C>A	c.(427-429)Cca>Aca	p.P143T	TLE1_ENST00000376499.3_Intron|TLE1_ENST00000376472.1_Intron			Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	0	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCCTAATCTGGCTTGCCCGGC	0.493000													12	7					7.03913e-09	7.44065e-09	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862665	5862665	+	Silent	SNP	A	A	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:5862665A>G	ENST00000329322.5	-	1	462	c.463T>C	c.(463-465)Ttg>Ctg	p.L155L	OR52E6_ENST00000379946.2_Silent_p.L159L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAAGCTCCTCAGG	0.488000													6	109					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526878	23526878	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:23526878T>C	ENST00000296682.3	+	11	1863	c.1681T>C	c.(1681-1683)Ttt>Ctt	p.F561L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	561					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGGCGGGGCTTTAGCTGGAA	0.527000										HNSCC(3;0.000094)			43	87					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950147	55950147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:55950147C>A	ENST00000577830.1	-	5	1074	c.661G>T	c.(661-663)Gga>Tga	p.G221*	CUEDC1_ENST00000360238.2_Nonsense_Mutation_p.G221*|CUEDC1_ENST00000577840.1_Nonsense_Mutation_p.G84*|CUEDC1_ENST00000407144.2_Nonsense_Mutation_p.G221*	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCCTGGTCTCCGGGCCCTGGC	0.622000													8	65					0.27861	0.27861	1	1	0
ZNF620	253639	broad.mit.edu	37	3	40557563	40557563	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:40557563G>A	ENST00000314529.6	+	5	627	c.478G>A	c.(478-480)Gag>Aag	p.E160K	ZNF620_ENST00000418905.1_Missense_Mutation_p.E46K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGGCACCATGAGGCCTATGA	0.433000													13	33					0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269181	82269181	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:82269181G>T	ENST00000429989.3	+	5	627	c.404G>T	c.(403-405)cGg>cTg	p.R135L	TSPAN14_ENST00000372156.1_Missense_Mutation_p.R135L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.R118L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R135L|TSPAN14_ENST00000341863.6_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			AAGTCCTACCGGGACGATATC	0.592000													8	59					1.76689e-08	1.86104e-08	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160510169	160510169	+	Silent	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:160510169C>T	ENST00000356956.1	+	43	6499	c.6351C>T	c.(6349-6351)ttC>ttT	p.F2117F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2117					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTACTACTTCAGCTGGGACT	0.542000											OREG0017769	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53184086	53184086	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr12:53184086C>G	ENST00000417996.2	-	9	1701	c.1627G>C	c.(1627-1629)Ggc>Cgc	p.G543R	KRT3_ENST00000309505.3_Missense_Mutation_p.G544R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	543	Gly-rich.|Tail.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						atgcctccgccgtaacctcct	0.687000													3	6					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988079	63988079	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:63988079G>A	ENST00000279227.5	+	12	1590	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E495K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	499	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TGCCTCTGCCGAGGGCCTCAA	0.657000													7	29					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768192	38768192	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:38768192G>A	ENST00000449082.2	-	16	2991	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	998					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGCAATGGGCACAGAGACC	0.562000													44	32					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543081	182543081	+	Silent	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:182543081A>T	ENST00000295108.3	-	2	964	c.507T>A	c.(505-507)gtT>gtA	p.V169V	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	169					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAAGCGTCTGAACGAAGGAGA	0.562000													38	47					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73849846	73849846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:73849846G>A	ENST00000334126.7	-	5	1100	c.874C>T	c.(874-876)Caa>Taa	p.Q292*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q292*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.Q292*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	292						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTTCTAATTTGAGGCTGGAAT	0.428000													48	34					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55946203	55946203	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:55946203G>A	ENST00000263923.4	-	30	4271	c.3976C>T	c.(3976-3978)Ctt>Ttt	p.L1326F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1326					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTTTAAAAGTTCTGCTTCC	0.522000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			52	248					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137893537	137893537	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:137893537A>T	ENST00000260803.4	-	1	254	c.101T>A	c.(100-102)tTg>tAg	p.L34*	DBR1_ENST00000505015.2_Intron|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	34						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAGCACAGCAAGAGGTCGAC	0.652000													13	13					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15820841	15820841	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:15820841C>G	ENST00000452625.2	-	29	3830	c.3743G>C	c.(3742-3744)cGg>cCg	p.R1248P	MYH11_ENST00000396324.3_Missense_Mutation_p.R1248P|MYH11_ENST00000576790.2_Missense_Mutation_p.R1241P|MYH11_ENST00000300036.5_Missense_Mutation_p.R1241P|AF001548.5_ENST00000574212.1_RNA	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1241			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCAGGACCCGCAGCTCCCC	0.617000			T	CBFB	AML								73	156					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50635684	50635684	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:50635684G>C	ENST00000303434.4	+	6	554	c.435G>C	c.(433-435)tcG>tcC	p.S145S	TRABD_ENST00000380909.4_Silent_p.S145S|TRABD_ENST00000395829.1_Silent_p.S145S|TRABD_ENST00000395827.1_Silent_p.S145S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	145										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GGCTCATGTCGGGGCTGATGC	0.652000													7	37					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277267	48277267	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:48277267C>T	ENST00000225964.5	-	2	263	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	49	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D49H(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACGTCTCGGTCATGGTACCTG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						93	110					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102269866	102269866	+	Silent	SNP	G	G	C			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:102269866G>C	ENST00000370103.4	-	6	1518	c.1305C>G	c.(1303-1305)gcC>gcG	p.A435A	OLFM3_ENST00000338858.5_Silent_p.A455A|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	455	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATTGTTCCAGGCATAGAGAG	0.418000													16	74					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32194595	32194595	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:32194595C>T	ENST00000400246.1	+	14	1041	c.899C>T	c.(898-900)aCc>aTc	p.T300I	DEPDC5_ENST00000536766.1_Missense_Mutation_p.T272I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T300I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000400242.3_Missense_Mutation_p.T300I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T300I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T300I			O75140	DEPD5_HUMAN	DEP domain containing 5	300					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATAATTCTACCTCAGCACAA	0.408000													43	156					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99425711	99425711	+	Translation_Start_Site	SNP	A	A	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:99425711A>T	ENST00000354829.2	+	0	76				CYP3A43_ENST00000421837.2_De_novo_Start_OutOfFrame|CYP3A43_ENST00000415413.1_De_novo_Start_OutOfFrame|CYP3A43_ENST00000444905.1_De_novo_Start_InFrame|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_De_novo_Start_OutOfFrame|CYP3A43_ENST00000342499.4_De_novo_Start_OutOfFrame	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAAAACTCAGAAGACAGAGCT	0.433000													22	72					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769782	37769782	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:37769782C>T	ENST00000402918.2	-	3	2578	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAAGCTGGGCCGCTCCAGGGC	0.716000													18	13					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	67					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101128	27101129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:27101128_27101129insA	ENST00000324856.7	+	18	4781_4782	c.4410_4411insA	c.(4411-4413)aatfs	p.N1471fs	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.N1088fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1471					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTGGCACCAATGCCCAGCA	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								44	32	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33237370	33237371	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:33237370_33237371insGC	ENST00000401073.2	+	6	2660_2661	c.2590_2591insGC	c.(2590-2592)agcfs	p.S864fs	KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.S805fs|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.S816fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	805	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGTGGGCTGTAGCAAGGGTGGT	0.698													11	20	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50663104	50663105	+	Frame_Shift_Ins	INS	-	-	GACAATTT			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:50663104_50663105insGACAATTT	ENST00000371824.1	+	6	995_996	c.738_739insGACAATTT	c.(739-741)gacfs	p.-249fs	ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.-249fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.-266fs|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.-254fs|ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.-252fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.-254fs|ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.-249fs			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTTGCAGGCTGGACAATTTGCT	0.411													15	172	---	---	---	---					
DENND4B	9909	broad.mit.edu	37	1	153906758	153906758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:153906758delA	ENST00000361217.4	-	19	3212	c.2794delT	c.(2794-2796)tccfs	p.S932fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	932										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGAGTAGGGGAAGGGCGCTCC	0.587													2	4	---	---	---	---					
DSTYK	25778	broad.mit.edu	37	1	205180419	205180424	+	In_Frame_Del	DEL	GCGACA	GCGACA	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr1:205180419_205180424delGCGACA	ENST00000367162.3	-	1	270_275	c.240_245delTGTCGC	c.(238-246)gatgtcgcc>gac	p.VA81del	DSTYK_ENST00000367160.4_In_Frame_Del_p.VA81del|DSTYK_ENST00000367161.3_In_Frame_Del_p.VA81del	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	81						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCCGGTTTCGGCGACATCGCCTGCAg	0.670													9	12	---	---	---	---					
ANKMY1	51281	broad.mit.edu	37	2	241468694	241468702	+	In_Frame_Del	DEL	TCCTGTCCC	TCCTGTCCC	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr2:241468694_241468702delTCCTGTCCC	ENST00000391987.1	-	5	804_812	c.438_446delGGGACAGGA	c.(436-447)gagggacaggat>gat	p.EGQ146del	ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_In_Frame_Del_p.EGQ146del|ANKMY1_ENST00000401804.1_In_Frame_Del_p.EGQ235del|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	146							zinc ion binding	p.Q148H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAAAAAGGGATCCTGTCCCTCCTGCAGTC	0.522													12	25	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	8	---	---	---	---					
MAPKAPK3	7867	broad.mit.edu	37	3	50655026	50655032	+	Frame_Shift_Del	DEL	GGGCCCT	GGGCCCT	-	rs147044454	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:50655026_50655032delGGGCCCT	ENST00000446044.1	+	4	626_632	c.30_36delGGGCCCT	c.(28-36)gggggccctfs	p.GGP10fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.GGP10fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	10					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGAGCAGGGGGGCCCTGTGCCCCCGC	0.710													14	9	---	---	---	---					
SEMA5B	54437	broad.mit.edu	37	3	122662289	122662289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:122662289delC	ENST00000195173.4	-	4	725	c.422delG	c.(421-423)ggafs	p.G141fs	SEMA5B_ENST00000357599.3_Frame_Shift_Del_p.G141fs|SEMA5B_ENST00000451055.2_Frame_Shift_Del_p.G195fs|SEMA5B_ENST00000465147.1_5'UTR			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	141	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTACCTGGCTCCCACGATGAG	0.612													2	4	---	---	---	---					
CLCN2	1181	broad.mit.edu	37	3	184076836	184076836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr3:184076836delC	ENST00000265593.4	-	2	318	c.147delG	c.(145-147)tggfs	p.W49fs	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.W49fs|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.W49fs|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.W49fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	49						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGGGACCTTTCCAGGGTTCAG	0.642													28	64	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134071974	134071975	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr4:134071974_134071975insA	ENST00000264360.5	+	1	1505_1506	c.679_680insA	c.(679-681)cagfs	p.Q227fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTGCCCCCCCAGCAGCAGCGC	0.668													22	23	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14293231	14293232	+	Frame_Shift_Ins	INS	-	-	ATGA			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:14293231_14293232insATGA	ENST00000344204.4	+	6	1188_1189	c.1164_1165insATGA	c.(1165-1167)atgfs	p.-390fs	TRIO_ENST00000509967.2_Frame_Shift_Ins_p.-341fs|TRIO_ENST00000537187.1_Frame_Shift_Ins_p.-390fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCACTTTGCCATGAACTGTAT	0.485													7	92	---	---	---	---					
ANKRD55	79722	broad.mit.edu	37	5	55407589	55407589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:55407589delG	ENST00000341048.4	-	10	1137	c.986delC	c.(985-987)cctfs	p.P330fs	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Frame_Shift_Del_p.P42fs|ANKRD55_ENST00000504958.2_Frame_Shift_Del_p.P287fs	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	329										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTGGGAGGGAGGGGGTCGAGT	0.493													44	199	---	---	---	---					
SEPT8	23176	broad.mit.edu	37	5	132096493	132096495	+	Splice_Site	DEL	CTT	CTT	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr5:132096493_132096495delCTT	ENST00000296873.7	-	9	1568_1570	c.1285_1287delAAG	c.(1285-1287)aagdel	p.K429del	SEPT8_ENST00000378706.1_Splice_Site_p.K429del|SEPT8_ENST00000378721.4_Splice_Site_p.K427del|SEPT8_ENST00000448933.1_Splice_Site_p.K369del|SEPT8_ENST00000458488.2_Splice_Site_p.K429del|SEPT8_ENST00000378699.2_Splice_Site_p.K369del|SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000378701.1_Splice_Site_p.K427del|SEPT8_ENST00000378719.2_Splice_Site_p.K429del	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	429					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCCACCTACTTCTTCTTGTCC	0.635													10	94	---	---	---	---					
HIST1H4A	8359	broad.mit.edu	37	6	26022120	26022125	+	In_Frame_Del	DEL	ACCTAT	ACCTAT	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:26022120_26022125delACCTAT	ENST00000359907.3	+	1	214_219	c.214_219delACCTAT	c.(214-219)acctatdel	p.TY72del		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						TGACGCTGTCACCTATACGGAGCACG	0.592													39	150	---	---	---	---					
ZFP57	346171	broad.mit.edu	37	6	29640709	29640709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:29640709delA	ENST00000376883.1	-	6	1530	c.1119delT	c.(1117-1119)tttfs	p.F373fs	ZFP57_ENST00000488757.1_Frame_Shift_Del_p.F393fs|ZFP57_ENST00000376881.3_Frame_Shift_Del_p.F373fs			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	309					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.F373F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATTTCTTGCTAAAAGTCAAAG	0.502													129	201	---	---	---	---					
HLA-DQB1	3119	broad.mit.edu	37	6	32629870	32629870	+	Frame_Shift_Del	DEL	G	G	-	rs9273971		TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr6:32629870delG	ENST00000399084.1	-	4	713	c.535delC	c.(535-537)cttfs	p.L179fs	HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000399082.3_Frame_Shift_Del_p.L89fs|HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.L179fs|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	179	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.I180fs*12(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTAATAAGGGGGGTGGAC	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				13	41	---	---	---	---					
GNA12	2768	broad.mit.edu	37	7	2770942	2770953	+	In_Frame_Del	DEL	CGTCTCTTCCTG	CGTCTCTTCCTG	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr7:2770942_2770953delCGTCTCTTCCTG	ENST00000275364.3	-	4	1170_1181	c.1008_1019delCAGGAAGAGACG	c.(1006-1020)gacaggaagagacgg>gag	p.336_340DRKRR>E	GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_In_Frame_Del_p.277_281DRKRR>E|GNA12_ENST00000407653.1_In_Frame_Del_p.260_264DRKRR>E|GNA12_ENST00000396960.3_In_Frame_Del_p.188_192DRKRR>E|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_In_Frame_Del_p.243_247DRKRR>E	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	336					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCTGCGGTTCCGTCTCTTCCTGTCGAAGCACT	0.594													14	24	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr8:38285914_38285916delTCA	ENST00000341462.5	-	4	1346_1348	c.405_407delTGA	c.(403-408)gatgac>gac	p.135_136DD>D	FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000447712.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						9	292	---	---	---	---					
C10orf90	118611	broad.mit.edu	37	10	128193397	128193398	+	In_Frame_Ins	INS	-	-	GGC			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr10:128193397_128193398insGGC	ENST00000284694.7	-	3	491_492	c.371_372insGCC	c.(370-372)ccc>ccGCCc	p.124_124P>PP	C10orf90_ENST00000392694.1_In_Frame_Ins_p.77_77P>PP|C10orf90_ENST00000454341.1_In_Frame_Ins_p.124_124P>PP|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_In_Frame_Ins_p.221_221P>PP|C10orf90_ENST00000356858.3_In_Frame_Ins_p.77_77P>PP	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	124										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTCCTCTTTGGGCGGCAGCTC	0.649											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	85	---	---	---	---					
MMP27	64066	broad.mit.edu	37	11	102573753	102573753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:102573753delG	ENST00000260229.4	-	3	529	c.438delC	c.(436-438)ttcfs	p.F146fs		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	146					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAATCTTGGTGAATTTTAGTG	0.408													46	74	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													2	4	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													3	5	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2048239	2048263	+	Frame_Shift_Del	DEL	GATGATCCTGGCGATGGCTTGCAGG	GATGATCCTGGCGATGGCTTGCAGG	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:2048239_2048263delGATGATCCTGGCGATGGCTTGCAGG	ENST00000563630.1	-	12	2762_2786	c.2520_2544delCCTGCAAGCCATCGCCAGGATCATC	c.(2518-2544)tccctgcaagccatcgccaggatcatcfs	p.SLQAIARII840fs	ZNF598_ENST00000431526.1_Frame_Shift_Del_p.SLQAIARII895fs|ZNF598_ENST00000562103.1_Frame_Shift_Del_p.SLQAIARII840fs|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	895						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAGCTACGTGATGATCCTGGCGATGGCTTGCAGGGAGGGGAAGT	0.680													8	123	---	---	---	---					
TOX3	27324	broad.mit.edu	37	16	52473239	52473239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr16:52473239delG	ENST00000219746.9	-	7	1913	c.1629delC	c.(1627-1629)cccfs	p.P543fs	TOX3_ENST00000407228.3_Frame_Shift_Del_p.P538fs	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	543	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGCAGGGATGGGGGATGTTA	0.577													15	12	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71228421	71228431	+	Frame_Shift_Del	DEL	CGGCGTCTGCT	CGGCGTCTGCT	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:71228421_71228431delCGGCGTCTGCT	ENST00000405159.3	-	1	79_89	c.15_25delAGCAGACGCCG	c.(13-27)ggagcagacgccggafs	p.GADAG5fs	FAM104A_ENST00000403627.3_Frame_Shift_Del_p.GADAG5fs|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Frame_Shift_Del_p.GADAG5fs|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583024.1_Frame_Shift_Del_p.GADAG5fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	5										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			CCACTACTTCCGGCGTCTGCTCCGCGCCCCC	0.730													9	46	---	---	---	---					
BAHCC1	57597	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
CCDC102B	79839	broad.mit.edu	37	18	66721355	66721356	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr18:66721355_66721356insTTTTT	ENST00000360242.5	+	8	1640_1641	c.1523_1524insTTTTT	c.(1522-1527)aggcacfs	p.RH508fs	CCDC102B_ENST00000319445.6_Frame_Shift_Ins_p.RH508fs	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	508										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACTGAACTCAGGCACTTGCAAA	0.356													10	76	---	---	---	---					
NACC1	112939	broad.mit.edu	37	19	13246210	13246229	+	Frame_Shift_Del	DEL	CAGCGCCGTGGTGGAGCTGC	CAGCGCCGTGGTGGAGCTGC	-	rs149110290	byFrequency	TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:13246210_13246229delCAGCGCCGTGGTGGAGCTGC	ENST00000292431.4	+	2	315_334	c.189_208delCAGCGCCGTGGTGGAGCTGC	c.(187-210)cgcagcgccgtggtggagctgccgfs	p.SAVVELP64fs		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	64	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACAACAGCCGCAGCGCCGTGGTGGAGCTGCCGGCGGCTGT	0.636													32	22	---	---	---	---					
EPS15L1	58513	broad.mit.edu	37	19	16514635	16514648	+	Frame_Shift_Del	DEL	TCCTCCTGCTGCAA	TCCTCCTGCTGCAA	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:16514635_16514648delTCCTCCTGCTGCAA	ENST00000602009.1	-	9	1955_1968	c.1060_1073delTTGCAGCAGGAGGA	c.(1060-1074)ttgcagcaggaggaafs	p.LQQEE354fs	EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.LQQEE508fs			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	508	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.Q510Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CAGCTGGGTTTCCTCCTGCTGCAATCGGTTCAGC	0.500													8	76	---	---	---	---					
CYP2B7P	1556	broad.mit.edu	37	19	41450314	41450336	+	RNA	DEL	ACACAGAGGCAGTCATCCGTGAG	ACACAGAGGCAGTCATCCGTGAG	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr19:41450314_41450336delACACAGAGGCAGTCATCCGTGAG	ENST00000599198.1	+	0	1097_1119					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AAAATGCCATACACAGAGGCAGTCATCCGTGAGATTCAGAGAT	0.529													7	15	---	---	---	---					
ASCC2	84164	broad.mit.edu	37	22	30200632	30200633	+	Frame_Shift_Ins	INS	-	-	TTCCTCCGAG			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chr22:30200632_30200633insTTCCTCCGAG	ENST00000397771.2	-	14	1524_1525	c.1347_1348insCTCGGAGGAA	c.(1345-1350)gaagagfs	p.E450fs	ASCC2_ENST00000542393.1_Frame_Shift_Ins_p.E374fs|ASCC2_ENST00000307790.3_Frame_Shift_Ins_p.E450fs			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CATACCTCCTCTTCCTCCGAGT	0.559													8	267	---	---	---	---					
ASMTL	8623	broad.mit.edu	37	X	1546829	1546830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:1546829_1546830insA	ENST00000534940.1	-	7	745_746	c.520_521insT	c.(520-522)gcgfs	p.A174fs	ASMTL_ENST00000381333.4_Frame_Shift_Ins_p.A216fs|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Frame_Shift_Ins_p.A156fs|ASMTL_ENST00000381317.3_Frame_Shift_Ins_p.A232fs	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	232	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGGTGTCCGCGGCCGGGATG	0.678													11	30	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969390	44969400	+	Frame_Shift_Del	DEL	TGCCAAGATTG	TGCCAAGATTG	-			TCGA-E7-A85H-01A-11D-A34U-08	TCGA-E7-A85H-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1c49e9-4375-432a-9f2c-cfee91783fdc	368dbeb0-d638-4045-8935-8fa9e7ca852c	g.chrX:44969390_44969400delTGCCAAGATTG	ENST00000377967.4	+	28	4113_4123	c.4072_4082delTGCCAAGATTG	c.(4072-4083)tgccaagattgtfs	p.CQDC1358fs	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.CQDC1313fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.CQDC1279fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.CQDC1365fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1358					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATAGTACATTGCCAAGATTGTGCACGAAAA	0.365			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								31	17	---	---	---	---					
