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
COL9A3	1299	broad.mit.edu	37	20	61458604	61458604	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:61458604C>T	ENST00000343916.3	+	16	807	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	268	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGACCGAGGCGAGAGGGGCC	0.632000													8	56					0	0	0.307466	0	0
OR4K5	79317	broad.mit.edu	37	14	20389081	20389081	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:20389081C>A	ENST00000315915.4	+	1	341	c.316C>A	c.(316-318)Ctt>Att	p.L106I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	106					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)		CTTTATTCACCTTTTTACTGG	0.433000													18	44					1.99824e-07	2.10925e-07	0.520397	1	0
PHACTR1	221692	broad.mit.edu	37	6	13185076	13185076	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:13185076C>G	ENST00000379345.2	+	5	516	c.275C>G	c.(274-276)tCc>tGc	p.S92C	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	232						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTCCTCCTGTCCCAAGATCCT	0.552000													66	100					0	0	0.870114	0	0
FGFR1	2260	broad.mit.edu	37	8	38275486	38275486	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:38275486C>G	ENST00000341462.5	-	11	2395	c.1454G>C	c.(1453-1455)gGa>gCa	p.G485A	FGFR1_ENST00000326324.6_Missense_Mutation_p.G394A|FGFR1_ENST00000397113.2_Missense_Mutation_p.G483A|FGFR1_ENST00000335922.5_Missense_Mutation_p.G475A|FGFR1_ENST00000356207.5_Missense_Mutation_p.G396A|FGFR1_ENST00000447712.2_Missense_Mutation_p.G485A|FGFR1_ENST00000532791.1_Missense_Mutation_p.G483A|FGFR1_ENST00000397091.5_Missense_Mutation_p.G483A|FGFR1_ENST00000425967.3_Missense_Mutation_p.G516A|FGFR1_ENST00000397108.4_Missense_Mutation_p.G483A|FGFR1_ENST00000397103.1_Missense_Mutation_p.G396A			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	485	Protein kinase.				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		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)	GCAGCCCTCTCCCAGGGGTTT	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						46	25					0	0	0.853193	0	0
PDE11A	50940	broad.mit.edu	37	2	178936789	178936789	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:178936789C>G	ENST00000286063.6	-	1	693	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGAGCGGGCAAAACTCTTC	0.612000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	79					0	0	0.184627	0	0
PASK	23178	broad.mit.edu	37	2	242046892	242046892	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:242046892C>T	ENST00000405260.1	-	17	4388	c.3690G>A	c.(3688-3690)ggG>ggA	p.G1230G	PASK_ENST00000358649.4_Silent_p.G1237G|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000234040.4_Silent_p.G1230G|PASK_ENST00000544142.1_Silent_p.G1044G|PASK_ENST00000539818.1_Silent_p.G1014G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1230	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTGCAGCAGCCCAGACACAA	0.542000													25	54					0	0	0.681144	0	0
CDCA3	83461	broad.mit.edu	37	12	6958994	6958994	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6958994C>T	ENST00000422785.3	-	4	383	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000540683.1_Silent_p.L93L|CDCA3_ENST00000535406.1_Silent_p.L93L|CDCA3_ENST00000538862.2_Silent_p.L93L			Q99618	CDCA3_HUMAN	cell division cycle associated 3	93	F-box-like.				cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATACTTCACTCAGCTGTTTCA	0.463000													23	119					0	0	0.624587	0	0
ITGB2	3689	broad.mit.edu	37	21	46314945	46314945	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:46314945C>T	ENST00000397850.2	-	10	1476	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	ITGB2_ENST00000397854.3_Missense_Mutation_p.V285M|ITGB2_ENST00000355153.4_Missense_Mutation_p.V342M|ITGB2_ENST00000397852.1_Missense_Mutation_p.V342M|ITGB2_ENST00000397857.1_Missense_Mutation_p.V342M|ITGB2_ENST00000302347.5_Missense_Mutation_p.V342M			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	342	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCTCCCCCACGGCTGACTTG	0.577000													18	26					0	0	0.539581	0	0
NKTR	4820	broad.mit.edu	37	3	42678866	42678866	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42678866C>T	ENST00000232978.8	+	13	1858	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	557	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGTTCCAAGTCTGGGCACCGA	0.413000													12	57					0	0	0.411799	0	0
PLCL2	23228	broad.mit.edu	37	3	17052785	17052785	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:17052785T>C	ENST00000418129.2	+	2	2034	c.1569T>C	c.(1567-1569)aaT>aaC	p.N523N	PLCL2_ENST00000432376.1_Silent_p.N523N|PLCL2_ENST00000396755.2_Silent_p.N523N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	649	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTCCTTTAATGAAGTGCTTG	0.413000													11	54					0	0	0.457914	0	0
OR51M1	390059	broad.mit.edu	37	11	5411026	5411026	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:5411026A>T	ENST00000328611.3	+	1	420	c.398A>T	c.(397-399)gAc>gTc	p.D133V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	133						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTCCTTTGACCGCCTTGTG	0.507000													4	69					0	0	0.150653	0	0
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:11648245G>A	ENST00000262442.4	+	31	6311	c.6243G>A	c.(6241-6243)aaG>aaA	p.K2081K	DNAH9_ENST00000454412.2_Silent_p.K2081K	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	p.K2081N(1)		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)		ACATCCCCAAGATTGTGACTG	0.597000													8	6					0	0	0.307466	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945872	26945872	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:26945872C>G	ENST00000528896.2	-	32	5834	c.5760G>C	c.(5758-5760)ctG>ctC	p.L1920L	KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Silent_p.L1777L|KIAA0100_ENST00000544884.1_Silent_p.L1777L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1920						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTCCTCTGTCAGGCGCCACC	0.512000													7	114					0	0	0.248553	0	0
PPP1CA	5499	broad.mit.edu	37	11	67168200	67168200	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:67168200C>G	ENST00000376745.4	-	3	526	c.378G>C	c.(376-378)gaG>gaC	p.E126D	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E137D|PPP1CA_ENST00000358239.4_Missense_Mutation_p.E82D	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	126					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGCTGGCACACTCGTGGTTCC	0.562000													17	81					0	0	0.520397	0	0
C15orf43	145645	broad.mit.edu	37	15	45270712	45270712	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45270712G>C	ENST00000340827.3	+	7	566	c.549G>C	c.(547-549)aaG>aaC	p.K183N		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	183										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ATGCCATGAAGAAATTCCTTG	0.294000													7	20					0	0	0.248553	0	0
SNHG14	104472715	broad.mit.edu	37	15	25321130	25321130	+	RNA	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:25321130G>T	ENST00000549804.2	+	0	1109				SNORD116-11_ENST00000383882.1_RNA																							CAAAATGAGTGAAAACTTTAT	0.453000													7	41					0.0477658	0.0482273	0.307466	1	0
RSRC2	65117	broad.mit.edu	37	12	123001882	123001882	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123001882G>A	ENST00000331738.7	-	5	639	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RSRC2_ENST00000354654.2_Missense_Mutation_p.S117L	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	165	Ser-rich.							p.S165L(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTGGATCTCGATTTCTTCCT	0.517000													13	115					0	0	0.435327	0	0
GGT7	2686	broad.mit.edu	37	20	33442618	33442618	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:33442618G>A	ENST00000336431.5	-	9	1255	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	404					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCAGTGAAGAGCCTGTTCTCG	0.567000													7	94					0	0	0.278610	0	0
WNK3	65267	broad.mit.edu	37	X	54276034	54276034	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:54276034C>T	ENST00000354646.2	-	17	3185	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	WNK3_ENST00000375159.2_Missense_Mutation_p.R916Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R916Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	916					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAATGTGTCCCGTGATATTTC	0.398000													8	78					0	0	0.335167	0	0
DENND1C	79958	broad.mit.edu	37	19	6468350	6468350	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:6468350C>G	ENST00000381480.2	-	22	1798	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	DENND1C_ENST00000543576.1_Missense_Mutation_p.E518D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	562						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTCCAGAATCTCGCTCAACA	0.577000													7	14					0	0	0.278610	0	0
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:53104067C>T	ENST00000408890.4	+	1	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642000													14	56					0	0	0.479597	0	0
COQ2	27235	broad.mit.edu	37	4	84193256	84193256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:84193256C>T	ENST00000311469.4	-	4	761	c.762G>A	c.(760-762)tgG>tgA	p.W254*	COQ2_ENST00000439031.2_Nonsense_Mutation_p.W217*|COQ2_ENST00000311461.7_Nonsense_Mutation_p.W204*	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	204					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CTAGTTGAGGCCAGTATGAAA	0.358000													6	7					0	0	0.278610	0	0
BAP1	8314	broad.mit.edu	37	3	52436687	52436687	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436687C>G	ENST00000460680.1	-	16	2458	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	BAP1_ENST00000296288.5_Missense_Mutation_p.D645H	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	663	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCTGGTCATCAATCTGTAGG	0.527000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							32	3					0	0	0.760397	0	0
RXFP3	51289	broad.mit.edu	37	5	33937235	33937235	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:33937235G>A	ENST00000330120.3	+	1	745	c.390G>A	c.(388-390)caG>caA	p.Q130Q		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	130						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGACTTTCAGTTTGTGCTCA	0.567000													4	89					0	0	0.184627	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923816	144923816	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:144923816C>A	ENST00000529945.1	-	2	1570	c.1131G>T	c.(1129-1131)atG>atT	p.M377I	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M214I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M214I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M214I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M280I|PDE4DIP_ENST00000479408.2_Start_Codon_SNP_p.M1I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M351I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M351I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M377I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.M214I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	214					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCTTCAGTCATGGGCTAGG	0.398000			T	PDGFRB	MPD								20	191					1.15919e-05	1.20532e-05	0.575678	1	0
GLS2	27165	broad.mit.edu	37	12	56865968	56865968	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56865968G>C	ENST00000311966.4	-	16	1801	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	508					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCCATGGCTGACAAGGCAAA	0.502000													74	111					0	0	0.870114	0	0
AMER3	205147	broad.mit.edu	37	2	131520501	131520501	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:131520501G>A	ENST00000423981.1	+	2	966	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	AMER3_ENST00000321420.4_Missense_Mutation_p.G286S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.G286C(1)									GGTTCCCAGGGGCCCTCTCCA	0.637000													13	40					0	0	0.435327	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735415	101735415	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:101735415C>A	ENST00000506729.1	-	10	1829	c.1658G>T	c.(1657-1659)gGa>gTa	p.G553V	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G300V|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G491V|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G553V|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G300V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	553						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTATTAATCCTTCTTTAAT	0.323000													7	8					0.00307968	0.00313977	0.278610	1	0
SNRNP35	11066	broad.mit.edu	37	12	123950235	123950235	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123950235C>T	ENST00000526639.2	+	2	727	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.L55F|SNRNP35_ENST00000350887.5_Missense_Mutation_p.L50F	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	50					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGAGATCCCCTCCTCACCCT	0.557000													17	89					0	0	0.539581	0	0
SLC18B1	116843	broad.mit.edu	37	6	133105152	133105152	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:133105152C>A	ENST00000275227.4	-	6	674	c.578G>T	c.(577-579)gGc>gTc	p.G193V	SLC18B1_ENST00000538764.1_Missense_Mutation_p.G67V|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	193					transmembrane transport	integral to membrane											CACTTCATAGCCAAAGGATTG	0.383000													12	23					2.27111e-07	2.38524e-07	0.411799	1	0
TEKT5	146279	broad.mit.edu	37	16	10775971	10775971	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:10775971C>T	ENST00000283025.2	-	4	813	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	248					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCTCCAGCACGTGCTGAGCA	0.552000													70	84					0	0	0.870114	0	0
TTC18	118491	broad.mit.edu	37	10	75013740	75013740	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:75013740G>C	ENST00000310715.3	-	28	3479	c.3359C>G	c.(3358-3360)tCt>tGt	p.S1120C	TTC18_ENST00000340329.3_Missense_Mutation_p.S360C|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.S589C|RP11-152N13.5_ENST00000457147.1_RNA|RP11-152N13.5_ENST00000394864.2_RNA|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.S1090C|TTC18_ENST00000401621.2_Missense_Mutation_p.S1120C	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1120							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTATCAGAAAGATGGATTTCC	0.458000													21	83					0	0	0.639603	0	0
PNPLA7	375775	broad.mit.edu	37	9	140379137	140379137	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140379137G>A	ENST00000406427.1	-	21	2585	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L	PNPLA7_ENST00000371457.1_Missense_Mutation_p.P331L|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P725L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	725					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTTGACAGCCGGGTTCCCCAA	0.662000													3	11					0	0	0.115264	0	0
LPHN2	23266	broad.mit.edu	37	1	82436188	82436188	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:82436188T>C	ENST00000370728.1	+	18	3557	c.2912T>C	c.(2911-2913)aTt>aCt	p.I971T	LPHN2_ENST00000370730.1_Missense_Mutation_p.I971T|LPHN2_ENST00000370717.2_Missense_Mutation_p.I971T|LPHN2_ENST00000370715.1_Missense_Mutation_p.I958T|LPHN2_ENST00000370713.1_Missense_Mutation_p.I958T|LPHN2_ENST00000370721.1_Missense_Mutation_p.I896T|LPHN2_ENST00000394879.1_Missense_Mutation_p.I958T|LPHN2_ENST00000370727.1_Missense_Mutation_p.I971T|LPHN2_ENST00000335786.5_Missense_Mutation_p.I971T|LPHN2_ENST00000370725.1_Missense_Mutation_p.I971T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.I958T|LPHN2_ENST00000271029.4_Missense_Mutation_p.I971T|LPHN2_ENST00000359929.3_Missense_Mutation_p.I958T|LPHN2_ENST00000319517.6_Missense_Mutation_p.I958T			O95490	LPHN2_HUMAN	latrophilin 2	971					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAGCTGCTATTGACTATAAG	0.353000													11	35					0	0	0.387290	0	0
CAMLG	819	broad.mit.edu	37	5	134086448	134086448	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:134086448G>C	ENST00000297156.2	+	4	819		c.e4-1		CAMLG_ENST00000514518.1_Splice_Site	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand						defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCTCTACACAGAGTGAAAAGA	0.358000													8	16					0	0	0.307466	0	0
MATN4	8785	broad.mit.edu	37	20	43929794	43929794	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43929794C>A	ENST00000537548.1	-	6	1081	c.837G>T	c.(835-837)cgG>cgT	p.R279R	MATN4_ENST00000372751.4_Silent_p.R130R|MATN4_ENST00000372756.1_Silent_p.R279R|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Silent_p.R279R|MATN4_ENST00000360607.6_Silent_p.R238R|MATN4_ENST00000372754.1_Silent_p.R320R			O95460	MATN4_HUMAN	matrilin 4	320	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCAGTGGCACCGTGGCCCAC	0.557000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	94					1.49906e-05	1.55101e-05	0.457914	1	0
DEFA5	1670	broad.mit.edu	37	8	6912954	6912954	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:6912954C>T	ENST00000330590.2	-	2	320	c.284G>A	c.(283-285)tGa>tAa	p.*95*		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	0					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTAGGAAGCTCAGCGACAGCA	0.483000													9	9					0	0	0.307466	0	0
COMP	1311	broad.mit.edu	37	19	18896513	18896513	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:18896513C>T	ENST00000542601.2	-	13	1928	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	COMP_ENST00000425807.1_Silent_p.Q493Q|COMP_ENST00000222271.2_Silent_p.Q546Q			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	546			Missing (in PSACH; mild form).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGGGTCAATCTGCGCGTCAC	0.622000													9	58					0	0	0.335167	0	0
DMD	1756	broad.mit.edu	37	X	32503148	32503148	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:32503148C>T	ENST00000357033.4	-	21	2897	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	DMD_ENST00000378677.2_Silent_p.L893L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	897					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTTTCAGGGCTATGC	0.413000													7	31					0	0	0.278610	0	0
GLIS1	148979	broad.mit.edu	37	1	54060263	54060263	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:54060263G>A	ENST00000312233.2	-	3	879	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGGGCTCCGGAGTCCATTT	0.662000													9	33					0	0	0.387290	0	0
ZNF20	7568	broad.mit.edu	37	19	12243475	12243475	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:12243475T>C	ENST00000334213.5	-	4	1750	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GCCACATTGCTTGCATTGATA	0.403000													98	121					0	0	0.870114	0	0
PSPH	5723	broad.mit.edu	37	7	56088853	56088853	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:56088853C>A	ENST00000395471.3	-	4	858	c.53G>T	c.(52-54)tGt>tTt	p.C18F	PSPH_ENST00000275605.3_Missense_Mutation_p.C18F|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	18					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCAAAACACACAGCATC	0.438000													15	76					0.000219431	0.000225917	0.457914	1	0
GCN1L1	10985	broad.mit.edu	37	12	120565654	120565654	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:120565654C>T	ENST00000300648.6	-	58	8027	c.8015G>A	c.(8014-8016)tGa>tAa	p.*2672*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	0					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGCCTCTCATGTCAGGAT	0.542000													30	232					0	0	0.729181	0	0
LSM14B	149986	broad.mit.edu	37	20	60706547	60706547	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:60706547C>T	ENST00000253001.4	+	7	1177	c.971C>T	c.(970-972)tCt>tTt	p.S324F	LSM14B_ENST00000279068.6_Missense_Mutation_p.S324F			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	324					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACATCTCTTCTGAACTCAAG	0.552000													3	39					0	0	0.150653	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097749	73097749	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:73097749G>T	ENST00000395176.2	-	1	34	c.5C>A	c.(4-6)gCa>gAa	p.A2E	WBSCR22_ENST00000464615.1_Intron	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	2					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						GCGCATGGCTGCCATGTTGAA	0.627000													8	44					0.27861	0.27995	0.278610	1	0
GBF1	8729	broad.mit.edu	37	10	104123535	104123535	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:104123535G>A	ENST00000369983.3	+	17	2343	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	695	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAACTAATTGAAATTAAAAA	0.463000													24	96					0	0	0.654019	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507362	74507362	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:74507362C>T	ENST00000354431.4	-	7	1444	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R418Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	418								p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTAAATGTTCGGAGTTTCAT	0.363000													13	30					0	0	0.411799	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414989	88414989	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:88414989G>A	ENST00000418378.1	-	5	1534	c.963C>T	c.(961-963)ctC>ctT	p.L321L	SPARCL1_ENST00000282470.6_Silent_p.L321L|SPARCL1_ENST00000503414.1_Silent_p.L196L	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	321					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TAGGTTCCATGAGCAGAGCCT	0.483000													22	101					0	0	0.639603	0	0
GALR2	8811	broad.mit.edu	37	17	74073059	74073059	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:74073059G>A	ENST00000329003.3	+	2	801	c.711G>A	c.(709-711)atG>atA	p.M237I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	237					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGACACGCATGATCCTCATCG	0.706000													26	20					0	0	0.693898	0	0
CDV3	55573	broad.mit.edu	37	3	133293922	133293922	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293922G>C	ENST00000264993.3	+	2	595	c.280G>C	c.(280-282)Gat>Cat	p.D94H	CDV3_ENST00000420115.2_5'UTR|CDV3_ENST00000431519.2_Missense_Mutation_p.D94H|CDV3_ENST00000511392.1_5'UTR|CDV3_ENST00000515421.1_5'UTR|CDV3_ENST00000508481.1_5'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	94					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AAAAGAGGTTGATTACAGCGG	0.358000													27	41					0	0	0.729181	0	0
FBXO31	79791	broad.mit.edu	37	16	87364973	87364973	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:87364973G>A	ENST00000311635.7	-	9	1553	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	514					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCGGAAGGTGGCCTGGACCCG	0.617000													8	21					0	0	0.307466	0	0
CEBPB	1051	broad.mit.edu	37	20	48807640	48807640	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:48807640A>G	ENST00000303004.3	+	1	265	c.70A>G	c.(70-72)Atg>Gtg	p.M24V		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	24	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTTTAAATCCATGGAAGTGGC	0.736000													3	26					0	0	0.150653	0	0
ESPNL	339768	broad.mit.edu	37	2	239013413	239013413	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:239013413G>C	ENST00000343063.3	+	3	865	c.602G>C	c.(601-603)cGt>cCt	p.R201P	ESPNL_ENST00000409169.1_Missense_Mutation_p.R201P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	201										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGCACCTTCGTGCTCTCGAT	0.677000													7	7					0	0	0.248553	0	0
CEP170	9859	broad.mit.edu	37	1	243328008	243328008	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:243328008G>A	ENST00000366542.1	-	13	3305	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	CEP170_ENST00000366544.1_Missense_Mutation_p.S987L|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S987L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1085	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTACTAGATGAACCAGATAC	0.483000													4	34					0	0	0.217242	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14977537	14977537	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:14977537G>C	ENST00000453695.2	-	6	473	c.29C>G	c.(28-30)aCt>aGt	p.T10S	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15S|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10S|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15S|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15S|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T130S|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130S	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	130					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACAGGACAGTTCCATTATT	0.443000								Non-homologous end-joining					17	116					0	0	0.557998	0	0
SEC23A	10484	broad.mit.edu	37	14	39545169	39545169	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:39545169G>C	ENST00000537403.1	-	4	1553	c.351C>G	c.(349-351)gaC>gaG	p.D117E	SEC23A_ENST00000536508.1_Missense_Mutation_p.D193E|SEC23A_ENST00000545328.2_Missense_Mutation_p.D290E|SEC23A_ENST00000307712.6_Missense_Mutation_p.D319E			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	319					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATTTGGCATTGTCTTTGTCAA	0.383000													5	18					0	0	0.184627	0	0
TMBIM6	7009	broad.mit.edu	37	12	50149478	50149478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50149478C>T	ENST00000423828.1	+	4	728	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	TMBIM6_ENST00000267115.5_Missense_Mutation_p.H76Y|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H134Y|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H76Y|TMBIM6_ENST00000547798.1_Missense_Mutation_p.H39Y|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H76Y	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	76					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCAACACCTCATAGCCATGA	0.433000													26	182					0	0	0.667858	0	0
VSTM4	196740	broad.mit.edu	37	10	50227712	50227712	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:50227712C>T	ENST00000332853.4	-	8	969	c.946G>A	c.(946-948)Gag>Aag	p.E316K		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4							integral to membrane|plasma membrane		p.E316*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTGTTCTCCTCGAAGAGGATC	0.522000													18	59					0	0	0.575678	0	0
MTMR8	55613	broad.mit.edu	37	X	63548760	63548760	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:63548760G>A	ENST00000374852.3	-	12	1440	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	458	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGCCACACAGAATGTGTTTT	0.403000													5	5					0	0	0.184627	0	0
NLRP13	126204	broad.mit.edu	37	19	56424636	56424636	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:56424636T>A	ENST00000588751.1	-	5	571	c.547A>T	c.(547-549)Aac>Tac	p.N183Y	NLRP13_ENST00000342929.3_Missense_Mutation_p.N183Y			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	183							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTCATGTTCTCTCTGTAT	0.418000													13	84					0	0	0.479597	0	0
HPS3	84343	broad.mit.edu	37	3	148847538	148847538	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:148847538T>C	ENST00000296051.2	+	1	168	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L	HPS3_ENST00000460120.1_Missense_Mutation_p.F10L|HPS3_ENST00000494327.1_3'UTR	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	10						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTGCACCCGTTCGGGTCGCA	0.721000									Hermansky-Pudlak syndrome				7	26					0	0	0.335167	0	0
DUOX1	53905	broad.mit.edu	37	15	45454121	45454121	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45454121G>C	ENST00000321429.4	+	31	4449	c.4042G>C	c.(4042-4044)Gag>Cag	p.E1348Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.E1348Q|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E994Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1348	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCGCCTCAGGGAGATCTACTC	0.617000													8	22					0	0	0.278610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803315	185803315	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:185803315G>A	ENST00000302277.6	+	4	3786	c.3192G>A	c.(3190-3192)aaG>aaA	p.K1064K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1064						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGCCAACAAGGTTAAATTTA	0.468000													16	31					0	0	0.500413	0	0
CDV3	55573	broad.mit.edu	37	3	133293897	133293897	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293897G>C	ENST00000264993.3	+	2	570	c.255G>C	c.(253-255)tgG>tgC	p.W85C	CDV3_ENST00000420115.2_5'UTR|CDV3_ENST00000431519.2_Missense_Mutation_p.W85C|CDV3_ENST00000511392.1_5'UTR|CDV3_ENST00000515421.1_5'UTR|CDV3_ENST00000508481.1_5'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	85					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AAGATGAATGGAAAGAATTGG	0.368000													23	46					0	0	0.667858	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24520155	24520155	+	RNA	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:24520155G>C	ENST00000558293.1	+	0	817					NR_102693.1																						ATGGTGGGTGGAGGAACCCCG	0.597000													8	22					0	0	0.335167	0	0
CLPX	10845	broad.mit.edu	37	15	65447318	65447318	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:65447318G>A	ENST00000300107.3	-	11	1601	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	471					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTCTTCAATGTCTTGGTGAG	0.473000													15	24					0	0	0.457914	0	0
HLA-B	3106	broad.mit.edu	37	6	31322894	31322894	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:31322894C>T	ENST00000412585.2	-	5	1030	c.1002G>A	c.(1000-1002)agG>agA	p.R334R		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGAACTCTTCCTCCTACACA	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				14	102					0	0	0.457914	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266										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)		CTGCACCCAGCGGAAATGCTG	0.532000													9	30					0	0	0.307466	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478000	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	26					0	0	0.217242	0	0
KLK15	55554	broad.mit.edu	37	19	51329977	51329977	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:51329977C>G	ENST00000326856.4	-	5	644	c.515G>C	c.(514-516)aGc>aCc	p.S172T	KLK15_ENST00000598239.1_Missense_Mutation_p.S173T|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000416184.1_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	173	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGAGATAATGCTGATGTTGGC	0.562000													25	145					0	0	0.693898	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979430	68979430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:68979430G>A	ENST00000433211.2	-	6	952	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.Q260*|CTNNA3_ENST00000545309.1_Nonsense_Mutation_p.Q260*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCATATTCTGGATCCCTTGT	0.458000													5	112					0	0	0.184627	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266189	3266189	+	RNA	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:3266189C>T	ENST00000576468.1	+	0	418																											ACACACACCTCAGTGAAGTGA	0.522000													11	11					0	0	0.361761	0	0
HCK	3055	broad.mit.edu	37	20	30674544	30674544	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:30674544C>T	ENST00000534862.1	+	10	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	HCK_ENST00000375852.2_Silent_p.L317L|HCK_ENST00000520553.1_Silent_p.L296L|HCK_ENST00000538448.1_Silent_p.L296L|HCK_ENST00000375862.2_Silent_p.L316L|HCK_ENST00000518730.1_Silent_p.L295L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	317	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCATGACAAGCTGGTCAAACT	0.582000													75	15					0	0	0.870114	0	0
OR2M7	391196	broad.mit.edu	37	1	248487560	248487560	+	Missense_Mutation	SNP	T	T	C	rs41304034		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:248487560T>C	ENST00000317965.2	-	1	339	c.311A>G	c.(310-312)tAt>tGt	p.Y104C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGATATATAGAAGAAAAT	0.458000													62	74					0	0	0.870114	0	0
PRKG2	5593	broad.mit.edu	37	4	82027076	82027076	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:82027076C>T	ENST00000395578.1	-	16	2070	c.1954G>A	c.(1954-1956)Ggg>Agg	p.G652R	PRKG2_ENST00000418486.2_Missense_Mutation_p.G623R|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.G232R|PRKG2_ENST00000264399.1_Missense_Mutation_p.G652R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	652	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGTCAACCCCAGAAAAGGGT	0.393000													5	15					0	0	0.217242	0	0
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	947					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358000													5	31					0	0	0.184627	0	0
CARM1	10498	broad.mit.edu	37	19	11031350	11031350	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11031350C>T	ENST00000327064.4	+	12	1540	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CARM1_ENST00000344150.4_Silent_p.I450I	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	450					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACGACATCAGTATTGTGG	0.622000													19	62					0	0	0.592651	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266111	3266111	+	RNA	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:3266111C>T	ENST00000576468.1	+	0	418																											GACTCTCATTCTGTGCAGACA	0.532000													8	16					0	0	0.278610	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													5	65					0	0	0.184627	0	0
SPATA33	124045	broad.mit.edu	37	16	89724678	89724678	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:89724678C>T	ENST00000301031.4	+	2	57	c.57C>T	c.(55-57)tcC>tcT	p.S19S	SPATA33_ENST00000579310.1_Silent_p.S20S|SPATA33_ENST00000568929.1_5'UTR	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33																		AGAAGGGATCCACCTATTCAG	0.532000													10	37					0	0	0.361761	0	0
ACACB	32	broad.mit.edu	37	12	109625935	109625935	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:109625935C>G	ENST00000338432.7	+	13	2231	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	ACACB_ENST00000377854.5_Missense_Mutation_p.F704L|ACACB_ENST00000377848.3_Missense_Mutation_p.F704L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	704	Biotin carboxylation.				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)	GGCACTGCTTCTCCTGGGGAG	0.542000													20	110					0	0	0.608945	0	0
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:55450851G>A	ENST00000588756.1	-	6	1822	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	NLRP7_ENST00000446217.1_Missense_Mutation_p.R474C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632000													20	57					0	0	0.608945	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409421	105409421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:105409421C>T	ENST00000333244.5	-	7	12486	c.12367G>A	c.(12367-12369)Gac>Aac	p.D4123N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4123						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCTTGTCGGCCAGGGAC	0.587000													96	250					0	0	0.870114	0	0
MYBPC1	4604	broad.mit.edu	37	12	102020652	102020652	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:102020652G>A	ENST00000549145.1	+	4	206	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E10K|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E36K|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E36K|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000536007.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTTTCAGATGAAGAGGAAGT	0.398000													15	74					0	0	0.500413	0	0
FOXI2	399823	broad.mit.edu	37	10	129536033	129536033	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:129536033G>A	ENST00000388920.4	+	1	535	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	166					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGTGCCCCGCGACGAGGACGA	0.667000													4	19					0	0	0.150653	0	0
CCDC126	90693	broad.mit.edu	37	7	23682709	23682709	+	Missense_Mutation	SNP	C	C	T	rs146283363	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:23682709C>T	ENST00000307471.3	+	4	855	c.398C>T	c.(397-399)aCg>aTg	p.T133M	CCDC126_ENST00000410069.1_Missense_Mutation_p.T133M|CCDC126_ENST00000409765.1_Missense_Mutation_p.T133M	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	133						extracellular region		p.T133M(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AATAAAAGAACGAATGTCTCG	0.428000													8	19					0	0	0.278610	0	0
C11orf82	220042	broad.mit.edu	37	11	82642952	82642952	+	Missense_Mutation	SNP	G	G	A	rs143776868	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:82642952G>A	ENST00000533655.1	+	6	784	c.572G>A	c.(571-573)aGg>aAg	p.R191K	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.R191K|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	191					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTTAATTTCAGGAAACTTCAG	0.408000													4	87					0	0	0.184627	0	0
ANKIB1	54467	broad.mit.edu	37	7	91981845	91981845	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981845G>C	ENST00000265742.3	+	9	1662	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	429							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTGTGACAGAGCAGTAAGA	0.398000													14	44					0	0	0.457914	0	0
FNBP4	23360	broad.mit.edu	37	11	47741610	47741610	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:47741610G>C	ENST00000263773.5	-	16	2846	c.2834C>G	c.(2833-2835)tCt>tGt	p.S945C		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	945										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTTACCAAAGATGGCATTTT	0.398000													11	24					0	0	0.411799	0	0
NUP107	57122	broad.mit.edu	37	12	69127366	69127366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:69127366G>T	ENST00000229179.4	+	24	2568	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	NUP107_ENST00000539906.1_Nonsense_Mutation_p.E717*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E507*|NUP107_ENST00000401003.3_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	746					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTATCCGAGAACATTTGTG	0.398000													7	121					0.00198382	0.00203244	0.248553	1	0
SRBD1	55133	broad.mit.edu	37	2	45789849	45789849	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:45789849T>A	ENST00000263736.4	-	10	1414	c.1352A>T	c.(1351-1353)aAg>aTg	p.K451M	SRBD1_ENST00000535761.1_De_novo_Start_InFrame	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	451					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATATTGACCTTAACCGTCAG	0.343000													16	85					0	0	0.520397	0	0
IGSF1	3547	broad.mit.edu	37	X	130409595	130409595	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:130409595C>A	ENST00000370904.1	-	22	3924	c.3014G>T	c.(3013-3015)tGg>tTg	p.W1005L	IGSF1_ENST00000361420.3_Missense_Mutation_p.W1014L|IGSF1_ENST00000370910.1_Missense_Mutation_p.W1005L|IGSF1_ENST00000370903.3_Missense_Mutation_p.W1019L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1014	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTGGATCCCCAGAGCTGCAT	0.537000													11	64					4.68919e-08	5.00021e-08	0.361761	1	0
PPFIA2	8499	broad.mit.edu	37	12	81675058	81675058	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:81675058T>C	ENST00000550584.2	-	26	3485	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	PPFIA2_ENST00000552948.1_Missense_Mutation_p.K1043E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K1049E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K250E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K963E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K911E|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K600E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K1049E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K1058E|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.K1064E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K959E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	963										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCACCATTTTTAAATGGACA	0.323000													6	16					0	0	0.217242	0	0
CWC27	10283	broad.mit.edu	37	5	64081347	64081347	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:64081347G>C	ENST00000508024.1	+	5	637	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CWC27_ENST00000381070.3_Missense_Mutation_p.E146Q			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	146	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GCGACTGTCAGAAGTAGACAT	0.333000													12	20					0	0	0.479597	0	0
HPCA	3208	broad.mit.edu	37	1	33354707	33354707	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:33354707C>T	ENST00000373467.3	+	2	310	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	70	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCACGTCTTCCGCACCTTTGA	0.557000													37	119					0	0	0.847076	0	0
DHX37	57647	broad.mit.edu	37	12	125473494	125473494	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:125473494G>A	ENST00000308736.2	-	1	173	c.75C>T	c.(73-75)ccC>ccT	p.P25P		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	25							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGCGGCTCGGGGGGGCCCT	0.711000													29	34					0	0	0.788014	0	0
GNAT1	2779	broad.mit.edu	37	3	50231561	50231561	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:50231561G>C	ENST00000232461.3	+	6	729	c.615G>C	c.(613-615)aaG>aaC	p.K205N	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000433068.1_Missense_Mutation_p.K205N	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	205					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGGAGCGCAAGAAGTGGATCC	0.667000													14	16					0	0	0.500413	0	0
TNS3	64759	broad.mit.edu	37	7	47408747	47408747	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:47408747G>A	ENST00000398879.1	-	17	1862	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L	TNS3_ENST00000355730.3_Missense_Mutation_p.S259L|TNS3_ENST00000311160.9_Missense_Mutation_p.S499L			Q68CZ2	TENS3_HUMAN	tensin 3	499						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGCCCTTCCGAGGAGGACAG	0.592000													6	39					0	0	0.307466	0	0
GPR112	139378	broad.mit.edu	37	X	135441568	135441568	+	Silent	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:135441568A>G	ENST00000394143.1	+	11	7389	c.7098A>G	c.(7096-7098)caA>caG	p.Q2366Q	GPR112_ENST00000412101.1_Silent_p.Q2161Q|GPR112_ENST00000394141.1_Silent_p.Q2161Q|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.Q2366Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2366					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACAAGATCAATTGACGTTAT	0.343000													3	41					0	0	0.115264	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221102	44221102	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:44221102C>G	ENST00000371554.1	+	11	2266	c.2052C>G	c.(2050-2052)atC>atG	p.I684M	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I684M|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I684M			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	684					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)			ATCGCATGATCAAGCTAGGTC	0.483000													62	197					0	0	0.870114	0	0
IL3RA	3563	broad.mit.edu	37	X	1471230	1471230	+	Nonsense_Mutation	SNP	C	C	G	rs147935693		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:1471230C>G	ENST00000331035.4	+	6	796	c.447C>G	c.(445-447)taC>taG	p.Y149*	IL3RA_ENST00000381469.2_Nonsense_Mutation_p.Y71*	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	149						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	GTCAACAGTACGAGTGTCTTC	0.602000													54	524					0	0	0.870114	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889145	23889145	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23889145G>C	ENST00000532292.1	-	1	2030	c.1936C>G	c.(1936-1938)Cgc>Ggc	p.R646G		NM_019066.4	NP_061939.3			MAGE-like 2									p.R646S(1)|p.P677P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACCTATTAGCGGGGAGGGGGC	0.577000													8	16					0	0	0.278610	0	0
DCAF10	79269	broad.mit.edu	37	9	37842171	37842171	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:37842171T>C	ENST00000242323.7	+	3	813	c.739T>C	c.(739-741)Tgc>Cgc	p.C247R	DCAF10_ENST00000377724.3_Missense_Mutation_p.C247R|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	247						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CACCAAAGTATGCACTTTACA	0.368000													19	26					0	0	0.575678	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536962	140536962	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:140536962C>A	ENST00000539533.1	+	1	1386	c.1386C>A	c.(1384-1386)cgC>cgA	p.R462R																								TGTTCGTCCGCGAGAACAACA	0.617000													30	81					7.16026e-08	7.59642e-08	0.760397	1	0
TTN	7273	broad.mit.edu	37	2	179457374	179457374	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:179457374C>T	ENST00000589042.1	-	301	59582	c.59358G>A	c.(59356-59358)ttG>ttA	p.L19786L	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.L18145L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L17218L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L10846L|TTN_ENST00000460472.2_Silent_p.L10721L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L10913L|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18145	Fibronectin type-III 43.						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)			CATCAAGAATCAACTCAGGGG	0.373000													6	8					0	0	0.217242	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42917227G>A	ENST00000316161.4	-	1	406	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	CYP8B1_ENST00000437102.1_Missense_Mutation_p.R28C|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	28					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.R28C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATGGCCTGCGTTGTCGGAGC	0.582000													9	64					0	0	0.335167	0	0
WDR96	80217	broad.mit.edu	37	10	105912421	105912421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:105912421C>T	ENST00000357060.3	-	28	3719	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1203K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1202										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						TTCAAATGTTCATCAAAGGCC	0.353000													5	40					0	0	0.217242	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64666970	64666970	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:64666970C>T	ENST00000498707.1	-	3	928	c.586G>A	c.(586-588)Gat>Aat	p.D196N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.D196N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D196N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	196					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCTCTTCATCTTCTTGTTCA	0.468000													24	6					0	0	0.624587	0	0
SNAP29	9342	broad.mit.edu	37	22	21224644	21224644	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:21224644G>C	ENST00000215730.7	+	2	385	c.257G>C	c.(256-258)gGa>gCa	p.G86A		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGTCAGCGAGGAGTCCTGGAG	0.557000													20	102					0	0	0.575678	0	0
SERINC3	10955	broad.mit.edu	37	20	43133481	43133481	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43133481T>C	ENST00000342374.4	-	7	992	c.835A>G	c.(835-837)Act>Gct	p.T279A	SERINC3_ENST00000255175.1_Missense_Mutation_p.T279A|SERINC3_ENST00000541235.1_Missense_Mutation_p.T224A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	279						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGGTACATAGTGTAGAGGGTG	0.478000													7	49					0	0	0.278610	0	0
APCS	325	broad.mit.edu	37	1	159557901	159557901	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:159557901G>C	ENST00000255040.2	+	2	172	c.75G>C	c.(73-75)ggG>ggC	p.G25G		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	25	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACCTCAGTGGGAAGGTGTTTG	0.393000													11	49					0	0	0.411799	0	0
CCNY	219771	broad.mit.edu	37	10	35819118	35819118	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:35819118C>T	ENST00000374704.4	+	7	706	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	CCNY_ENST00000265375.9_Missense_Mutation_p.R122W|CCNY_ENST00000339497.5_Missense_Mutation_p.R151W|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.R122W	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	176	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CCGGTTCGTTCGGACACTGTT	0.532000													17	42					0	0	0.500413	0	0
MACF1	23499	broad.mit.edu	37	1	39851577	39851577	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:39851577C>T	ENST00000564288.1	+	57	15097	c.14320C>T	c.(14320-14322)Ctc>Ttc	p.L4774F	MACF1_ENST00000361689.2_Missense_Mutation_p.L2712F|MACF1_ENST00000372915.3_Missense_Mutation_p.L4779F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3214F|MACF1_ENST00000539005.1_Missense_Mutation_p.L2691F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2712F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4811F|MACF1_ENST00000545844.1_Missense_Mutation_p.L2712F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4779					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCCTGCCTCTCCAAGGTTT	0.483000													24	54					0	0	0.706142	0	0
HNF4G	3174	broad.mit.edu	37	8	76468215	76468215	+	Splice_Site	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:76468215A>T	ENST00000396423.2	+	6	739		c.e6-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTTCATTAAGGTGGCACTG	0.338000													5	8					0	0	0.184627	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66757722	66757722	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:66757722T>C	ENST00000258198.2	-	13	1588	c.1382A>G	c.(1381-1383)cAa>cGa	p.Q461R	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.Q384R|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	461					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CACAGTCTTTTGTCCTGAAAA	0.333000													14	26					0	0	0.479597	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:30380277C>A	ENST00000493196.1	-	4	630	c.530G>T	c.(529-531)gGa>gTa	p.G177V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443000													23	64					2.21704e-12	2.41334e-12	0.639603	1	0
IMPA1	3612	broad.mit.edu	37	8	82592977	82592977	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:82592977C>A	ENST00000256108.5	-	3	570	c.105G>T	c.(103-105)ctG>ctT	p.L35L	IMPA1_ENST00000449740.2_Silent_p.L94L|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Silent_p.L35L	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	35					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GAGAACTTTTCAGCATAACAT	0.299000													12	63					5.16669e-11	5.56617e-11	0.387290	1	0
SCAI	286205	broad.mit.edu	37	9	127781102	127781102	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:127781102G>A	ENST00000336505.6	-	9	895	c.837C>T	c.(835-837)ctC>ctT	p.L279L	SCAI_ENST00000373549.4_Silent_p.L302L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TACCAATAATGAGTGCGTCAG	0.378000													22	31					0	0	0.639603	0	0
ZNF687	57592	broad.mit.edu	37	1	151260360	151260360	+	Silent	SNP	C	C	T	rs142842127	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:151260360C>T	ENST00000368879.2	+	2	1691	c.1593C>T	c.(1591-1593)acC>acT	p.T531T		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCCCACCGGCTACCGCT	0.617000													15	76					0	0	0.479597	0	0
YBX3	8531	broad.mit.edu	37	12	10854593	10854593	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:10854593C>T	ENST00000228251.4	-	8	1219	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	YBX3_ENST00000279550.7_Missense_Mutation_p.R271H|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3			Y box binding protein 3																		GTTAGGAGGACGCGGGCGACG	0.517000													111	194					0	0	0.870114	0	0
OR5D18	219438	broad.mit.edu	37	11	55587183	55587183	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:55587183C>G	ENST00000333976.4	+	1	98	c.78C>G	c.(76-78)gtC>gtG	p.V26V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AACTGCAAGTCCCACTCTTCC	0.463000													8	30					0	0	0.307466	0	0
WAS	7454	broad.mit.edu	37	X	48547079	48547079	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:48547079G>C	ENST00000376701.4	+	10	1037	c.962G>C	c.(961-963)cGa>cCa	p.R321P		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	321					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCCATCTCGAGGAGGGAAC	0.587000			"""Mis, N, F, S"""			lymphoma							9	53					0	0	0.387290	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177629	89177629	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:89177629A>T	ENST00000561129.2	+	1	675	c.545A>T	c.(544-546)aAg>aTg	p.K182M	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.K182M			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTAGCCAGAAGCTCACCGGA	0.562000													7	22					0	0	0.248553	0	0
IL19	29949	broad.mit.edu	37	1	207014389	207014389	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:207014389A>T	ENST00000270218.6	+	6	1343	c.404A>T	c.(403-405)aAt>aTt	p.N135I	IL19_ENST00000340758.2_Missense_Mutation_p.N173I	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	135					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAGCCACCAATGCCACCAGA	0.517000													13	27					0	0	0.411799	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970046	101970046	+	Silent	SNP	T	T	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:101970046T>G	ENST00000543253.1	+	5	1168	c.249T>G	c.(247-249)ggT>ggG	p.G83G	GPRASP2_ENST00000332262.5_Silent_p.G83G|GPRASP2_ENST00000535209.1_Silent_p.G83G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAATGGGTGGTGCAAGACCCA	0.562000													4	58					0	0	0.150653	0	0
TDRD1	56165	broad.mit.edu	37	10	115962010	115962010	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:115962010G>A	ENST00000251864.2	+	6	802	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	TDRD1_ENST00000369282.1_Missense_Mutation_p.E217K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.E217K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E217K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	217					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCACAAACTTGAAAATAAATC	0.299000													11	23					0	0	0.361761	0	0
C1S	716	broad.mit.edu	37	12	7177163	7177163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:7177163T>A	ENST00000406697.1	+	15	1903	c.1275T>A	c.(1273-1275)tgT>tgA	p.C425*	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Nonsense_Mutation_p.C425*|C1S_ENST00000360817.5_Nonsense_Mutation_p.C425*|C1S_ENST00000402681.3_Nonsense_Mutation_p.C258*			P09871	C1S_HUMAN	complement component 1, s subcomponent	425					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCCTAGTCTGTGGAGTCCCCA	0.443000													22	128					0	0	0.639603	0	0
CTSO	1519	broad.mit.edu	37	4	156850813	156850813	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:156850813G>T	ENST00000433477.3	-	6	788	c.719C>A	c.(718-720)cCt>cAt	p.P240H		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	240					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GACTACCAAAGGGCCAAAGGT	0.378000													8	16					5.18039e-06	5.41351e-06	0.278610	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	29					0	0	0.150653	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971299	45971299	+	Missense_Mutation	SNP	T	T	C	rs233240	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:45971299T>C	ENST00000391621.1	-	1	89	c.43A>G	c.(43-45)Aac>Gac	p.N15D	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	15			N -> D (in dbSNP:rs233240).			keratin filament		p.N15D(1)		large_intestine(1)|lung(4)|skin(1)	6						TGCCAGGAGTTGGTGCAGGCG	0.667000													5	88					0	0	0.217242	0	0
PRX	57716	broad.mit.edu	37	19	40909734	40909734	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:40909734C>T	ENST00000291825.7	-	5	331	c.63G>A	c.(61-63)gtG>gtA	p.V21V	PRX_ENST00000324001.7_Silent_p.V21V	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	21	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCCGTCTCCACGATAATTT	0.682000													3	11					0	0	0.115264	0	0
PVRL4	81607	broad.mit.edu	37	1	161046208	161046208	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161046208C>G	ENST00000368012.3	-	4	1090	c.788G>C	c.(787-789)aGa>aCa	p.R263T	PVRL4_ENST00000453926.2_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	263	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCCTTCTCTGCCAATGTG	0.552000													44	66					0	0	0.840704	0	0
PTCRA	171558	broad.mit.edu	37	6	42893345	42893345	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:42893345C>G	ENST00000304672.1	+	4	852	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PTCRA_ENST00000446507.1_Silent_p.L150L|PTCRA_ENST00000441198.1_Silent_p.L232L	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	257						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GATCTGCCCTCAGGGCTCCTT	0.632000													11	12					0	0	0.361761	0	0
MYLK	4638	broad.mit.edu	37	3	123383093	123383093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:123383093C>A	ENST00000360772.3	-	24	4222	c.3844G>T	c.(3844-3846)Gag>Tag	p.E1282*	MYLK_ENST00000354792.5_Nonsense_Mutation_p.E82*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.E1282*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.E1282*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.E1282*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.E1213*			Q15746	MYLK_HUMAN	myosin light chain kinase	1282	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCATGTGCTCGCTTTCCTGG	0.617000													25	123					3.85864e-22	4.28966e-22	0.639603	1	0
KIN	22944	broad.mit.edu	37	10	7816818	7816818	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:7816818G>A	ENST00000379562.4	-	7	691	c.644C>T	c.(643-645)tCc>tTc	p.S215F	KIN_ENST00000535925.1_Missense_Mutation_p.S215F|KIN_ENST00000543003.1_Missense_Mutation_p.S109F	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TGTTGCTCCGGATGAGCTACA	0.313000													18	87					0	0	0.575678	0	0
ZNF263	10127	broad.mit.edu	37	16	3339613	3339613	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:3339613G>A	ENST00000574253.1	+	2	917	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	ZNF263_ENST00000219069.5_Silent_p.P369P|ZNF263_ENST00000538765.1_Silent_p.P17P			O14978	ZN263_HUMAN	zinc finger protein 263	615					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGGGGCGACCGAAGGAACTGC	0.537000													20	33					0	0	0.557998	0	0
IMPG2	50939	broad.mit.edu	37	3	100963595	100963595	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:100963595G>C	ENST00000193391.7	-	13	1767	c.1580C>G	c.(1579-1581)tCt>tGt	p.S527C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	527					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAATCAATAGAAAGAAAATC	0.343000													5	14					0	0	0.184627	0	0
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512000													132	196					8.8899e-71	9.98918e-71	0.870114	1	0
ANKIB1	54467	broad.mit.edu	37	7	91981821	91981821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981821G>A	ENST00000265742.3	+	9	1638	c.1262G>A	c.(1261-1263)tGg>tAg	p.W421*		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	421							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCATTAAATGGTGTCCTACT	0.383000													7	40					0	0	0.307466	0	0
FCGR2A	2212	broad.mit.edu	37	1	161480706	161480706	+	Silent	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161480706T>A	ENST00000271450.6	+	5	740	c.702T>A	c.(700-702)gcT>gcA	p.A234A	FCGR2A_ENST00000367972.4_Silent_p.A233A	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	234						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGTTGCTGCTGTAGTGGCCT	0.517000													47	225					0	0	0.870114	0	0
BAP1	8314	broad.mit.edu	37	3	52436810	52436810	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436810C>G	ENST00000460680.1	-	15	2439	c.1968G>C	c.(1966-1968)aaG>aaC	p.K656N	BAP1_ENST00000296288.5_Missense_Mutation_p.K638N	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	656	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACTTCTTCCTCTTCTCTACCT	0.557000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							52	13					0	0	0.870114	0	0
SEC14L3	266629	broad.mit.edu	37	22	30858094	30858094	+	Silent	SNP	C	C	T	rs146711095		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:30858094C>T	ENST00000403066.1	-	10	856	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SEC14L3_ENST00000215812.4_Silent_p.G250G|SEC14L3_ENST00000415957.2_Silent_p.G191G|SEC14L3_ENST00000539629.1_Silent_p.G191G|SEC14L3_ENST00000401751.1_Silent_p.G191G|SEC14L3_ENST00000540910.1_Silent_p.G173G|SEC14L3_ENST00000402286.1_Silent_p.G173G			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	250	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATTTGGGGTTCCCATCTGGGT	0.507000													5	34					0	0	0.184627	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749968	79749968	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:79749968T>C	ENST00000305428.3	+	2	1554	c.1479T>C	c.(1477-1479)tcT>tcC	p.S493S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	493						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCACCTCTGGTCAGGGCA	0.532000													8	26					0	0	0.307466	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388576	1388576	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:1388576G>A	ENST00000324385.5	+	2	289	c.131G>A	c.(130-132)aGc>aAc	p.S44N	BAIAP3_ENST00000562208.1_Missense_Mutation_p.S9N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S9N|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S9N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S9N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S9N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S9N	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	44					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GACATTAAGAGCAGCGTGCTC	0.672000													27	5					0	0	0.717897	0	0
LIMA1	51474	broad.mit.edu	37	12	50571472	50571472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50571472G>C	ENST00000547825.1	-	5	2018	c.749C>G	c.(748-750)tCa>tGa	p.S250*	LIMA1_ENST00000394943.3_Nonsense_Mutation_p.S553*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.S393*|LIMA1_ENST00000341247.4_Nonsense_Mutation_p.S552*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.S249*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.S391*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.S392*	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	552					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTGGGCTTTGACATTTTGAT	0.502000													31	183					0	0	0.740014	0	0
BRPF1	7862	broad.mit.edu	37	3	9781381	9781381	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:9781381G>A	ENST00000383829.2	+	3	1702	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	BRPF1_ENST00000457855.1_Missense_Mutation_p.G433D|BRPF1_ENST00000433861.2_Missense_Mutation_p.G433D|BRPF1_ENST00000424362.1_Missense_Mutation_p.G433D|BRPF1_ENST00000302054.3_Missense_Mutation_p.G433D	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	433					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGCGCCAACGGCACCTCTTTC	0.607000													5	42					0	0	0.184627	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011529	73011529	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:73011529G>C	ENST00000313375.3	-	9	1633	c.1586C>G	c.(1585-1587)aCa>aGa	p.T529R	MLXIPL_ENST00000354613.1_Missense_Mutation_p.T529R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.T529R|MLXIPL_ENST00000434326.1_Missense_Mutation_p.T436R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.T529R|MLXIPL_ENST00000395189.1_Missense_Mutation_p.T436R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	529					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCAGCTGTGTGAGGCAGGG	0.672000													4	14					0	0	0.150653	0	0
VWF	7450	broad.mit.edu	37	12	6161750	6161750	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6161750G>C	ENST00000261405.5	-	16	2399	c.2145C>G	c.(2143-2145)atC>atG	p.I715M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	715					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCTGGAAGATCTCACCGT	0.587000													109	133					0	0	0.870114	0	0
OR8K3	219473	broad.mit.edu	37	11	56085825	56085825	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:56085825A>T	ENST00000312711.1	+	1	43	c.43A>T	c.(43-45)Acg>Tcg	p.T15S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATTCATTCTTACGGGAATCAC	0.418000													3	40					0	0	0.115264	0	0
IQGAP1	8826	broad.mit.edu	37	15	90972827	90972827	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90972827G>A	ENST00000268182.5	+	4	443	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	107	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTAGGCGACTGGCCTCCACTT	0.353000													15	30					0	0	0.520397	0	0
CELSR2	1952	broad.mit.edu	37	1	109806339	109806339	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:109806339C>T	ENST00000271332.3	+	9	5002	c.4941C>T	c.(4939-4941)cgC>cgT	p.R1647R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1647	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCGCACGCGCCAGGCCGACG	0.667000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	104					0	0	0.840704	0	0
FGF18	8817	broad.mit.edu	37	5	170883752	170883752	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:170883752C>T	ENST00000274625.5	+	5	1111	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	189					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGCCCTTCAAGTACACGA	0.682000													53	9					0	0	0.870114	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29091374	29091374	+	RNA	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:29091374G>A	ENST00000569815.1	-	0	327					NR_047567.1																						ACCTCTTTCAGCTGAGCTCGG	0.567000													3	5					0	0	0.150653	0	0
CTAG2	30848	broad.mit.edu	37	X	153880682	153880682	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880682C>G	ENST00000247306.4	-	2	556	c.493G>C	c.(493-495)Gct>Cct	p.A165P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	165						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					AGATCTCTAGCTTTCTGCCCC	0.632000													43	10					0	0	0.847076	0	0
XRRA1	143570	broad.mit.edu	37	11	74556166	74556166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:74556166C>A	ENST00000340360.6	-	16	2186	c.1855G>T	c.(1855-1857)Gaa>Taa	p.E619*	XRRA1_ENST00000321448.8_Nonsense_Mutation_p.E344*|XRRA1_ENST00000527087.1_Nonsense_Mutation_p.E532*	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	619					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGCAGTTCTTCATAGCCGTGG	0.537000													41	105					2.01872e-29	2.25621e-29	0.870114	1	0
CTAG2	30848	broad.mit.edu	37	X	153880694	153880694	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880694C>T	ENST00000247306.4	-	2	544	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	161						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					TTCTGCCCCTCCGGGGAGGCG	0.632000													45	10					0	0	0.853193	0	0
SOX9	6662	broad.mit.edu	37	17	70119895	70119895	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:70119895G>A	ENST00000245479.2	+	3	1269	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	299					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGTACCTGCCGCCCAACGGCC	0.682000													13	61					0	0	0.479597	0	0
RGL3	57139	broad.mit.edu	37	19	11526625	11526625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11526625G>A	ENST00000380456.3	-	5	688	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	RGL3_ENST00000393423.3_Nonsense_Mutation_p.Q209*	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GTCCACACCTGAGGCGGCTCC	0.572000													116	162					0	0	0.870114	0	0
CCNA1	8900	broad.mit.edu	37	13	37012218	37012218	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr13:37012218G>A	ENST00000418263.1	+	4	906	c.556G>A	c.(556-558)Gta>Ata	p.V186I	CCNA1_ENST00000440264.1_Missense_Mutation_p.V143I|CCNA1_ENST00000255465.4_Missense_Mutation_p.V187I|CCNA1_ENST00000449823.1_Missense_Mutation_p.V143I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	187					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCCTATGCTGGTAGATTCATC	0.383000													36	53					0	0	0.788014	0	0
TYK2	7297	broad.mit.edu	37	19	10477209	10477209	+	Silent	SNP	C	C	T	rs55988893		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10477209C>T	ENST00000525621.1	-	6	994	c.513G>A	c.(511-513)tcG>tcA	p.S171S	TYK2_ENST00000264818.6_Silent_p.S171S|TYK2_ENST00000529370.1_Silent_p.S171S|TYK2_ENST00000524462.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	171	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCCTCGGTCGACAGCTCCC	0.557000													40	141					0	0	0.870114	0	0
WDR93	56964	broad.mit.edu	37	15	90272286	90272286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90272286G>A	ENST00000268130.7	+	10	1186	c.1085G>A	c.(1084-1086)tGc>tAc	p.C362Y	WDR93_ENST00000560294.1_Missense_Mutation_p.C362Y|WDR93_ENST00000444934.2_Missense_Mutation_p.C79Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	362					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCCTAGCTGCCTATTTGCA	0.537000													29	76					0	0	0.750413	0	0
HEATR3	55027	broad.mit.edu	37	16	50109505	50109505	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:50109505G>A	ENST00000299192.7	+	6	837	c.646G>A	c.(646-648)Gag>Aag	p.E216K	HEATR3_ENST00000285767.4_Missense_Mutation_p.E130K	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	216							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGTGACTGAGGATAACCC	0.383000													19	34					0	0	0.575678	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439886	42439886	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:42439886C>A	ENST00000397272.3	-	12	1231	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	PLA2G4F_ENST00000382396.4_Silent_p.G378G	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTCCTGCAACCCTGCCAGGC	0.577000													30	83					1.88708e-17	2.08678e-17	0.729181	1	0
KIAA1551	55196	broad.mit.edu	37	12	32136551	32136551	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32136551G>C	ENST00000312561.4	+	4	3076	c.2662G>C	c.(2662-2664)Gat>Cat	p.D888H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		TGTGAGTAGTGATACATTACA	0.373000													40	56					0	0	0.819951	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966018	88966018	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:88966018C>T	ENST00000333190.4	+	4	4331	c.3722C>T	c.(3721-3723)gCa>gTa	p.A1241V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1241						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTCACAGGCACATTTCAGT	0.468000										HNSCC(36;0.09)			21	63					0	0	0.575678	0	0
C11orf63	79864	broad.mit.edu	37	11	122795698	122795698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:122795698C>T	ENST00000227349.2	+	4	1255	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	C11orf63_ENST00000531316.1_Nonsense_Mutation_p.Q320*	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	320										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAATGGCATCAAAGAGCACA	0.408000													26	8					0	0	0.681144	0	0
ACBD4	79777	broad.mit.edu	37	17	43215296	43215296	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:43215296G>A	ENST00000431281.1	+	10	1097	c.628G>A	c.(628-630)Ggg>Agg	p.G210R	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000592162.1_Missense_Mutation_p.R197Q|ACBD4_ENST00000321854.8_Missense_Mutation_p.R197Q|ACBD4_ENST00000376955.4_Missense_Mutation_p.G194R|ACBD4_ENST00000591859.1_Missense_Mutation_p.G210R|ACBD4_ENST00000398322.3_Missense_Mutation_p.R197Q|ACBD4_ENST00000586346.1_Missense_Mutation_p.G210R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	194							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						ACAGAGCAGCGGGCAGCATCT	0.607000													6	51					0	0	0.248553	0	0
FAM212B	55924	broad.mit.edu	37	1	112269937	112269937	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:112269937C>G	ENST00000357260.5	-	2	728	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.E168Q	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	183										cervix(1)|endometrium(1)	2						CCCCCAGTCTCACCCTTCTCC	0.577000													68	53					0	0	0.870114	0	0
LAMA2	3908	broad.mit.edu	37	6	129687390	129687390	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:129687390C>G	ENST00000421865.2	+	33	4793	c.4744C>G	c.(4744-4746)Ctt>Gtt	p.L1582V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1582	Domain II and I.				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)		CACTGGCCTTCTTCTCGGTGA	0.463000													18	19					0	0	0.608945	0	0
MSC	9242	broad.mit.edu	37	8	72756080	72756080	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:72756080C>A	ENST00000325509.4	-	1	623	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	112					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGGGCGTTGGCCGCGTTCCGC	0.701000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	25					9.70103e-10	1.03975e-09	0.361761	1	0
DCDC2B	149069	broad.mit.edu	37	1	32678173	32678173	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:32678173G>A	ENST00000409358.1	+	5	610	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	204	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGGAGAGGATGAGTTCAAGGA	0.612000													33	85					0	0	0.740014	0	0
CCDC28A	25901	broad.mit.edu	37	6	139113917	139113917	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:139113917G>A	ENST00000332797.6	+	6	957	c.802G>A	c.(802-804)Gtt>Att	p.V268I		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	268										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGCACAAGATGTTCCAAATAC	0.338000													6	26					0	0	0.278610	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199027	81199027	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:81199027G>C	ENST00000394685.3	+	13	1854	c.1435G>C	c.(1435-1437)Ggg>Cgg	p.G479R	RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G479R|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G479R			Q8WUJ3	K1199_HUMAN	KIAA1199	479								p.G479R(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTGCACATCGGGGAGGAGAT	0.582000													21	53					0	0	0.681144	0	0
PKP2	5318	broad.mit.edu	37	12	32955491	32955491	+	Splice_Site	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32955491C>A	ENST00000340811.4	-	10	2122		c.e10-1		PKP2_ENST00000070846.6_Splice_Site	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTCGGCATCTGTTTTGTGA	0.408000													12	89					8.60227e-14	9.41296e-14	0.500413	1	0
KIF15	56992	broad.mit.edu	37	3	44867652	44867652	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:44867652G>C	ENST00000326047.4	+	21	2820	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E526Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	891					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTTCAAAAAAGAAAATGAAAC	0.378000													26	42					0	0	0.681144	0	0
C11orf84	144097	broad.mit.edu	37	11	63585488	63585488	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:63585488G>C	ENST00000294244.4	+	2	638	c.339G>C	c.(337-339)caG>caC	p.Q113H		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	113										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCTTGGAGCAGCACCCTCACA	0.642000													10	51					0	0	0.361761	0	0
COL11A2	1302	broad.mit.edu	37	6	33136782	33136782	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:33136782G>C	ENST00000341947.2	-	52	4029	c.3802C>G	c.(3802-3804)Cct>Gct	p.P1268A	COL11A2_ENST00000374714.1_Missense_Mutation_p.P1242A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1187A|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1221A|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1247A|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1208A|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1182A|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1161A	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1268	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AAACCAACAGGACCCTGATCC	0.592000													23	41					0	0	0.639603	0	0
SLC16A6	9120	broad.mit.edu	37	17	66270122	66270122	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:66270122C>T	ENST00000327268.4	-	4	486	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A108T	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	108						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GAGAAGGAGGCGGCCACCATC	0.542000													9	41					0	0	0.307466	0	0
S1PR5	53637	broad.mit.edu	37	19	10624779	10624779	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10624779G>A	ENST00000439028.3	-	2	1034	c.909C>T	c.(907-909)ccC>ccT	p.P303P	S1PR5_ENST00000333430.4_Silent_p.P303P	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	303						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						TGTAGATGATGGGGTTCAGAA	0.672000													11	35					0	0	0.387290	0	0
ANXA1	301	broad.mit.edu	37	9	75777739	75777739	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:75777739T>C	ENST00000376911.1	+	6	1399	c.517T>C	c.(517-519)Tct>Cct	p.S173P	ANXA1_ENST00000257497.6_Missense_Mutation_p.S173P			P04083	ANXA1_HUMAN	annexin A1	173					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTCAGACACATCTGGAGATTT	0.328000													3	1					0	0	0.115264	0	0
GORAB	92344	broad.mit.edu	37	1	170511708	170511708	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:170511708C>G	ENST00000367763.3	+	3	591	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	GORAB_ENST00000367762.1_Missense_Mutation_p.L191V	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	191						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TAAAAAAGCTCTTTTGGCTAA	0.403000													20	89					0	0	0.624587	0	0
KDM5C	8242	broad.mit.edu	37	X	53247478	53247478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:53247478C>T	ENST00000375401.3	-	3	863	c.331G>A	c.(331-333)Gac>Aac	p.D111N	KDM5C_ENST00000375379.3_Missense_Mutation_p.D111N|KDM5C_ENST00000375383.3_Intron|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.D111N	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	111	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGTAGAGGTCCAAGATCCGC	0.488000			"""N, F, S"""		clear cell renal carcinoma								10	50					0	0	0.335167	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269586	185269586	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:185269586G>C	ENST00000367498.3	-	11	1847	c.1225C>G	c.(1225-1227)Caa>Gaa	p.Q409E	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.Q191E|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	409					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						ACAGCCATTTGAAATCGGGCT	0.428000													5	29					0	0	0.184627	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23890799G>C	ENST00000532292.1	-	1	376	c.282C>G	c.(280-282)ccC>ccG	p.P94P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652000													5	16					0	0	0.184627	0	0
ZMYND19	116225	broad.mit.edu	37	9	140481554	140481554	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140481554C>T	ENST00000298585.2	-	4	450	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCCGGTGCCGCTCCCTAGA	0.622000													10	55					0	0	0.361761	0	0
RAG2	5897	broad.mit.edu	37	11	36614207	36614207	+	Silent	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:36614207G>T	ENST00000311485.3	-	2	1673	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	504					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTTACGGAGGGATTTCATTG	0.413000									Familial Hemophagocytic Lymphohistiocytosis				18	44					8.28177e-16	9.10995e-16	0.557998	1	0
NEB	4703	broad.mit.edu	37	2	152394482	152394482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:152394482G>T	ENST00000427231.2	-	140	21208	c.21006C>A	c.(21004-21006)taC>taA	p.Y7002*	NEB_ENST00000409198.1_Nonsense_Mutation_p.Y5301*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Y5301*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Y7002*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y7002*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Y7002*	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5301					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTCTCCTTGTATTTTATCT	0.423000													5	6					0.014758	0.0149729	0.184627	1	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				12	22	---	---	---	---					
RHBG	57127	broad.mit.edu	37	1	156339062	156339073	+	In_Frame_Del	DEL	GCCGCGGGCCGG	GCCGCGGGCCGG	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:156339062_156339073delGCCGCGGGCCGG	ENST00000368249.1	+	1	60_71	c.22_33delGCCGCGGGCCGG	c.(22-33)gccgcgggccggdel	p.AAGR8del	RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000368246.2_In_Frame_Del_p.AAGR8del|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000537040.1_In_Frame_Del_p.AAGR8del	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	8					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCTAGCCGCGCCGCGGGCCGGCGACTGCAGC	0.670													16	90	---	---	---	---					
MEGF10	84466	broad.mit.edu	37	5	126784798	126784799	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126784798_126784799insCAAT	ENST00000274473.6	+	23	3131_3132	c.2864_2865insCAAT	c.(2863-2868)aacaatfs	p.-957fs	MEGF10_ENST00000503335.2_Frame_Shift_Ins_p.-957fs|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTCAAAAAACAATCAACTGT	0.446													14	23	---	---	---	---					
PRRC1	133619	broad.mit.edu	37	5	126860380	126860381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126860380_126860381insA	ENST00000442138.2	+	3	407_408	c.261_262insA	c.(262-264)actfs	p.T88fs	PRRC1_ENST00000296666.8_Frame_Shift_Ins_p.T88fs|PRRC1_ENST00000512635.2_Frame_Shift_Ins_p.T88fs			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	88	Pro-rich.					Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CACCACTTGTTACTTCTATGCC	0.520													63	98	---	---	---	---					
COL19A1	1310	broad.mit.edu	37	6	70639419	70639419	+	Frame_Shift_Del	DEL	C	C	-	rs112596596	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:70639419delC	ENST00000322773.4	+	6	595	c.493delC	c.(493-495)cctfs	p.P165fs		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	165	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P165S(1)|p.P165F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGAACTCCGTCCTTTGTTTGA	0.393													6	6	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													2	4	---	---	---	---					
ITGA8	8516	broad.mit.edu	37	10	15639284	15639301	+	Splice_Site	DEL	CAGTGGTCGAAATCCCTA	CAGTGGTCGAAATCCCTA	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:15639284_15639301delCAGTGGTCGAAATCCCTA	ENST00000378076.3	-	21	2472_2486	c.2119_2133delTAGGGATTTCGACCACTG	c.(2119-2133)tagggatttcgaccadel	p.*GFRP707del	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	707					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACTCACAGCTCAGTGGTCGAAATCCCTACAATTGCAAA	0.491													8	36	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061168	38061169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:38061168_38061169insC	ENST00000250448.2	-	2	881_882	c.820_821insG	c.(820-822)gccfs	p.A274fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.A241fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	274					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cccgccgccggcccccgGCTGC	0.723													13	3	---	---	---	---					
PMM2	5373	broad.mit.edu	37	16	8906913	8906918	+	In_Frame_Del	DEL	GAAAAT	GAAAAT	-	rs34258285	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:8906913_8906918delGAAAAT	ENST00000268261.4	+	7	655_660	c.589_594delGAAAAT	c.(589-594)gaaaatdel	p.EN197del	PMM2_ENST00000566983.1_In_Frame_Del_p.EN170del|PMM2_ENST00000539622.1_In_Frame_Del_p.EN114del|PMM2_ENST00000569958.1_In_Frame_Del_p.EN106del|PMM2_ENST00000537352.1_In_Frame_Del_p.EN72del	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	197			E -> A (in CDG1A; dbSNP:rs34258285).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						GCGACATGTGGAAAATGACGGTTATA	0.471													18	208	---	---	---	---