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
CPT1A	1374	broad.mit.edu	37	11	68548117	68548117	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:68548117G>A	ENST00000265641.5	-	12	1603	c.1449C>T	c.(1447-1449)caC>caT	p.H483H	CPT1A_ENST00000376618.2_Silent_p.H483H|CPT1A_ENST00000540367.1_Silent_p.H483H|CPT1A_ENST00000539743.1_Silent_p.H483H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	483					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCTCCCAAAGGTGGGCCACGA	0.517000													10	9					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333073	55333073	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55333073G>A	ENST00000391728.4	+	5	742	c.709G>A	c.(709-711)Gga>Aga	p.G237R	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G237R|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G237R|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G142R|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G237R|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G237R	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTTCAGGCAGGAGAGAGCGT	0.577000													42	64					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657961	657961	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:657961A>T	ENST00000255622.6	+	17	2123	c.2080A>T	c.(2080-2082)Agc>Tgc	p.S694C	PDE6B_ENST00000496514.1_Missense_Mutation_p.S694C|PDE6B_ENST00000429163.2_Missense_Mutation_p.S415C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	694					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGACAAGAAGAGCTGGGTGGA	0.607000													21	51					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169393646	169393646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:169393646C>T	ENST00000511577.1	-	3	281	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	DDX60L_ENST00000505890.1_Missense_Mutation_p.E12K|DDX60L_ENST00000260184.7_Missense_Mutation_p.E12K|DDX60L_ENST00000515088.1_5'UTR			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	12							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTGTCATTTCCCTGAAAAAT	0.313000													4	5					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064856	9064856	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9064856C>T	ENST00000397910.4	-	3	22793	c.22590G>A	c.(22588-22590)agG>agA	p.R7530R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGAATTTTCCTAGTGTTAG	0.473000													23	51					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96551840	96551840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96551840G>A	ENST00000456556.1	-	52	3203	c.3119C>T	c.(3118-3120)tCg>tTg	p.S1040L	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.S67L|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.S461L|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.S291L					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGCTATATTCGAAACAGAATC	0.313000													6	7					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179797	90179797	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:90179797C>T	ENST00000370454.4	+	3	1923	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	556						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTCCAAAATCCCTCAGGCAG	0.428000													29	23					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105239613	105239613	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:105239613C>T	ENST00000554581.1	-	9	2412	c.932G>A	c.(931-933)gGc>gAc	p.G311D	AKT1_ENST00000349310.3_Missense_Mutation_p.G311D|AKT1_ENST00000544168.1_Missense_Mutation_p.G249D|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.G311D|AKT1_ENST00000554192.1_Missense_Mutation_p.G31D|AKT1_ENST00000555458.1_Missense_Mutation_p.G6D|AKT1_ENST00000554848.1_Missense_Mutation_p.G311D|AKT1_ENST00000555528.1_Missense_Mutation_p.G311D|AKT1_ENST00000407796.2_Missense_Mutation_p.G311D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	311	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CTCAGGTGTGCCGCAAAAGGT	0.602000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								33	26					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323473	10323473	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10323473C>T	ENST00000403437.2	-	3	166	c.72G>A	c.(70-72)aaG>aaA	p.K24K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	24	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAATCCGCTCCTTTTCTGATT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				47	80					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:21997802G>A	ENST00000261200.4	-	25	3143	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	ABCC9_ENST00000345162.2_Silent_p.F1012F|ABCC9_ENST00000261201.4_Silent_p.F1048F|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1048	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCAAAGGAAAATGCCTG	0.408000													10	37					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450200	105450200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:105450200G>A	ENST00000337685.2	+	5	1560	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E259K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E259K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	259										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAAGAGAGCGAGGATACCTG	0.453000													12	4					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317117	30317117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:30317117C>T	ENST00000375377.1	-	3	2061	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	654										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCTGGTTCCCCTAGATCT	0.517000													15	33					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69944955	69944955	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:69944955C>T	ENST00000370598.1	+	19	3460	c.2639C>T	c.(2638-2640)aCc>aTc	p.T880I	BAI3_ENST00000238918.8_Missense_Mutation_p.T86I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	880					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTCAGTTACCCTAATAGTA	0.353000													53	95					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192184	45192184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:45192184G>A	ENST00000279027.4	-	12	1519	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	SLC13A3_ENST00000396360.1_Missense_Mutation_p.R419C|SLC13A3_ENST00000435032.1_Missense_Mutation_p.R86C|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R451C|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R454C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R454C|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R419C	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	501						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTCTCAGGCGGATGGCCTGG	0.602000													23	23					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748784	96748784	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:96748784G>A	ENST00000260682.6	+	9	1484	c.1472G>A	c.(1471-1473)tGa>tAa	p.*491*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	0					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATTCCTGTCTGAAGAAGAGCA	0.507000													43	29					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118250483	118250483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:118250483C>T	ENST00000402510.2	-	4	625	c.626G>A	c.(625-627)cGg>cAg	p.R209Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	209										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGATTTTCCCGAACGGGCTG	0.507000													7	2					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101562661	101562661	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:101562661C>T	ENST00000284395.5	+	16	2317	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	LRRK1_ENST00000388948.3_Silent_p.I642I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	642	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGATGATCATCGTGGGTC	0.587000													30	47					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:52321411G>A	ENST00000356297.4	-	17	2873	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P925S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000													18	21					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111329419	111329419	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:111329419G>A	ENST00000257347.4	-	7	750	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	229					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TCCACAGGGCGAAGTCACTGG	0.612000													25	45					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229841	154229841	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:154229841C>T	ENST00000428931.1	+	20	2540	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	UBAP2L_ENST00000343815.6_Silent_p.L791L|UBAP2L_ENST00000361546.2_Silent_p.L791L|UBAP2L_ENST00000271877.7_Silent_p.L802L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	791					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCCAACCTCCCTCCTGGGG	0.468000													25	44					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188459	57188459	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:57188459G>A	ENST00000331162.4	-	5	933	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCAGTTAAAGGATTTGCCAC	0.373000													14	12					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837674	29837674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:29837674C>T	ENST00000354373.2	+	2	726	c.517C>T	c.(517-519)Cct>Tct	p.P173S	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	173	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCTGGGCTCCCCTCGCTTTAC	0.567000													59	82					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890658	45890658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:45890658G>A	ENST00000007414.3	-	16	1902	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.R571*	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	571					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGGAAGCCTCGGTCAGGCCGC	0.622000													26	71					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50398439	50398439	+	Splice_Site	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:50398439T>C	ENST00000595948.1	-	6	939		c.e6-2		IL4I1_ENST00000341114.3_Splice_Site|IL4I1_ENST00000391826.2_Splice_Site	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1							lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GATGGTGACCTGAGGGAGTCC	0.657000													15	22					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36422196	36422196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:36422196G>A	ENST00000273183.3	+	1	361	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.G21S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	21					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGAGGCGGTGGGCGCCGAGCA	0.672000													10	20					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622455	41622455	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:41622455G>A	ENST00000331105.2	+	3	339	c.267G>A	c.(265-267)gtG>gtA	p.V89V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	89					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGGCCCTGGTGGACCAGGGAG	0.597000													36	51					0	0	1	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015470	53015470	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:53015470C>T	ENST00000599143.1	-	0	125																											AGTCACAGATCACGCCTTAAA	0.398000													23	38					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187045	112187045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:112187045C>T	ENST00000455480.2	+	19	2983	c.2806C>T	c.(2806-2808)Cga>Tga	p.R936*	ACAD10_ENST00000313698.4_Nonsense_Mutation_p.R905*	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	905							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGCCCTGGCCGAGGCTTTGA	0.592000													5	203					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445948	32445948	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:32445948C>T	ENST00000266088.4	+	2	404	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	52					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCACCAATCGTGGGACTGT	0.468000													121	154					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163548	167163548	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:167163548G>A	ENST00000303354.6	-	3	635	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	SCN9A_ENST00000409435.1_Missense_Mutation_p.R99C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R99C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R99C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	99						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCATTGAAACGGAAGATTGTT	0.313000													8	14					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235463	34235463	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:34235463G>A	ENST00000587132.1	-	0	2564																											AACAATTGAGGAAAGACGATT	0.522000													13	23					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18148563	18148563	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:18148563G>A	ENST00000327031.4	-	30	3924	c.3699C>T	c.(3697-3699)tcC>tcT	p.S1233S	FLII_ENST00000545457.2_Silent_p.S1178S|FLII_ENST00000379450.4_Silent_p.S1147S|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Silent_p.S1222S	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1233					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATGTTCCTTGGACCGCATGT	0.662000													76	99					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113897351	113897351	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:113897351A>C	ENST00000451881.1	+	11	1054	c.805A>C	c.(805-807)Aag>Cag	p.K269Q	CUL4A_ENST00000375440.4_Missense_Mutation_p.K369Q|CUL4A_ENST00000375441.3_Missense_Mutation_p.K269Q|CUL4A_ENST00000326335.4_Missense_Mutation_p.K269Q	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	369					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GTTGGACTTCAAGGACAAGGT	0.458000													28	57					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309989	52309989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:52309989G>A	ENST00000550683.1	+	7	1361	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.W232*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.W406*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	406	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGTGCTGTGGGAGATTGCCC	0.622000													25	26					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72521022	72521022	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:72521022C>T	ENST00000377197.3	+	6	747	c.660C>T	c.(658-660)ccC>ccT	p.P220P	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	220						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AACTCTATCCCTTGACTAGTG	0.348000													27	45					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290791	20290791	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:20290791G>A	ENST00000377252.3	+	2	1041	c.200G>A	c.(199-201)aGa>aAa	p.R67K	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R67K	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	67						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGGTGGAAAAGAAACTTGGAC	0.527000													22	34					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432855	104432855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104432855C>T	ENST00000361820.3	-	3	2439	c.1839G>A	c.(1837-1839)tgG>tgA	p.W613*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	613					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTAGCCCAGTCCAGTGCCCAT	0.488000													19	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590565	179590565	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179590565G>A	ENST00000589042.1	-	70	20708	c.20484C>T	c.(20482-20484)atC>atT	p.I6828I	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I6511I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I5584I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6511	Ig-like 50.						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)			GGTATTCACCGATGTCTGAAG	0.388000													24	38					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760291	167760291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:167760291C>T	ENST00000409195.1	+	2	388	c.299C>T	c.(298-300)tCc>tTc	p.S100F	XIRP2_ENST00000420519.1_Missense_Mutation_p.S100F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S100F|XIRP2_ENST00000409043.1_Missense_Mutation_p.S100F|XIRP2_ENST00000409728.1_Missense_Mutation_p.S100F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S100F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGAGGATTCCCTGAGCAGT	0.517000													24	39					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871727	13871727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:13871727C>T	ENST00000265104.4	-	23	3648	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1182	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTAATTTCCTGCTCTAGG	0.373000									Kartagener syndrome				20	53					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74964046	74964046	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:74964046G>A	ENST00000315127.4	-	3	415	c.234C>T	c.(232-234)gaC>gaT	p.D78D	EDC3_ENST00000568176.1_Silent_p.D78D|EDC3_ENST00000426797.3_Silent_p.D78D	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	78	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTGATGAAGGTCTCCAAAAT	0.468000													33	80					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49231349	49231349	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:49231349G>A	ENST00000308025.3	-	7	790	c.711C>T	c.(709-711)atC>atT	p.I237I	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	237	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCTTCCCGGATCTTCTGCC	0.517000													41	76					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40475298	40475298	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:40475298G>A	ENST00000264657.5	-	19	2040	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	STAT3_ENST00000389272.3_Silent_p.I478I|STAT3_ENST00000585517.1_Silent_p.I576I|STAT3_ENST00000404395.3_Silent_p.I576I|STAT3_ENST00000588969.1_Silent_p.I576I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	576					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AAAGGGCCAGGATGTACTTTT	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	94					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635795	73635795	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:73635795C>T	ENST00000261917.3	-	2	2133	c.1140G>A	c.(1138-1140)acG>acA	p.T380T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	380					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.T380T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGATCTTCGTGAAGCGGA	0.552000													14	30					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81334773	81334773	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:81334773C>T	ENST00000222390.5	-	17	2169	c.1943G>A	c.(1942-1944)gGg>gAg	p.G648E	HGF_ENST00000457544.2_Missense_Mutation_p.G643E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	648	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTCACCTTCCCTCGATGATG	0.403000													16	66					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147841	27147841	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:27147841C>T	ENST00000288699.6	+	3	506	c.348C>T	c.(346-348)tgC>tgT	p.C116C	DPYSL5_ENST00000401478.1_Silent_p.C116C	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	116					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGAAGTGCCGAGGTCTGG	0.617000													10	20					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472452	88472452	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:88472452G>A	ENST00000394480.1	-	17	2424	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	NTRK3_ENST00000360948.2_Silent_p.S701S|NTRK3_ENST00000357724.2_Silent_p.S693S|NTRK3_ENST00000558676.1_Silent_p.S693S|NTRK3_ENST00000557856.1_Silent_p.S693S|NTRK3_ENST00000542733.2_Silent_p.S603S|NTRK3_ENST00000355254.2_Silent_p.S701S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	701	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGACATCTCTGGACATGCCGA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			47	76					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937274	46937274	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:46937274G>A	ENST00000313049.5	+	3	431	c.228G>A	c.(226-228)ggG>ggA	p.G76G	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Silent_p.G76G|PTH1R_ENST00000449590.1_Silent_p.G76G|PTH1R_ENST00000430002.2_Silent_p.G76G			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	76						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCACATCAGGGAAGCCCAGGA	0.547000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	38					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222605	130222605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:130222605C>T	ENST00000276211.5	+	12	1835	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S361F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S485F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	497					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTTCAGGTTCCTCTGAGGAG	0.488000													17	6					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10995381	10995381	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:10995381G>A	ENST00000324288.8	+	6	580	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CIITA_ENST00000381835.5_Silent_p.E149E|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	149					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTTCCCAGAGGAGCTTCCGG	0.597000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								3	19					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304487	10304487	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10304487C>T	ENST00000403437.2	-	25	3224	c.3130G>A	c.(3130-3132)Gaa>Aaa	p.E1044K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1044					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTTCTTTTCTTGTTCCAGA	0.338000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	31					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172744943	172744943	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:172744943G>A	ENST00000265087.4	-	4	2125	c.816C>T	c.(814-816)gcC>gcT	p.A272A		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	272					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTCTGCCTCGGGCATGGGCGT	0.607000													40	58					0	0	1	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142633	67142633	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:67142633C>T	ENST00000408636.1	+	0	92					NR_031673.1																						ctactggcttccctggtctcc	0.512000													22	31					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332412	22332412	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:22332412G>A	ENST00000558896.1	+	0	219																											TTGGCTTGATGAAAAAAAACA	0.318000													14	42					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48734092	48734092	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:48734092C>T	ENST00000285238.8	+	3	332	c.252C>T	c.(250-252)tcC>tcT	p.S84S	ABCC3_ENST00000427699.1_Silent_p.S84S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	84					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTGCGTCTCCTGGGCGGACC	0.607000													48	170					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36256067	36256067	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36256067C>T	ENST00000544099.1	+	7	822	c.759C>T	c.(757-759)ccC>ccT	p.P253P	C19orf55_ENST00000396908.4_Silent_p.P253P			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	253										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGGCCCCAGGGCACCCG	0.622000													30	38					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886612	3886612	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:3886612A>G	ENST00000319331.3	+	2	1048	c.287A>G	c.(286-288)aAc>aGc	p.N96S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	96						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAGCTTTTCAACTTGACTGAA	0.438000													23	36					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964849	40964849	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:40964849G>A	ENST00000313164.9	+	14	2115	c.1756G>A	c.(1756-1758)Ggt>Agt	p.G586S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	586	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTAGGATGAAGGTACAATGTT	0.348000													45	30					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197872649	197872649	+	Splice_Site	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:197872649T>C	ENST00000328737.2	-	20	2014		c.e20-2		ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44								protein binding	p.?(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGGTGTTCTAGGCAGAGAG	0.403000													29	41					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718676	107718676	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:107718676G>A	ENST00000445937.1	+	9	1188	c.927G>A	c.(925-927)gaG>gaA	p.E309E	OXR1_ENST00000517566.2_Silent_p.E309E|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Silent_p.E310E|OXR1_ENST00000312046.6_Silent_p.E302E|OXR1_ENST00000531443.1_Silent_p.E309E|OXR1_ENST00000497705.1_Silent_p.E242E	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	310					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTAACACTGAGGAAATAGACT	0.393000													53	145					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285704	152285704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:152285704C>T	ENST00000368799.1	-	3	1693	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	553	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.567000									Ichthyosis				335	335					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181724526	181724526	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:181724526G>A	ENST00000526775.1	+	27	4090	c.3925G>A	c.(3925-3927)Gag>Aag	p.E1309K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1279K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1260K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1328K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E935K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1309K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1328K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1328K(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAGAGAAGGAGTGCATGTA	0.483000													74	94					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362024	72362024	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:72362024G>A	ENST00000001146.2	-	4	930	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	CYP26B1_ENST00000546307.1_Silent_p.L168L|CYP26B1_ENST00000412253.1_Silent_p.L52L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	243					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCCTTCTGCAGGATCTGCCGA	0.617000													30	31					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89777094	89777094	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:89777094G>A	ENST00000561976.1	-	9	1325	c.948C>T	c.(946-948)ttC>ttT	p.F316F	VPS9D1_ENST00000389386.3_Silent_p.F386F					VPS9 domain containing 1																		ACGTCCCCAGGAACTGCTCCA	0.682000													22	9					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891766	38891766	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:38891766G>A	ENST00000359357.3	+	71	10393		c.e71-1		RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Splice_Site|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCTTCACAGACTTGTAGGT	0.423000													28	36					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86176949	86176949	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:86176949G>C	ENST00000257770.3	+	2	560	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	NT5E_ENST00000369651.3_Missense_Mutation_p.V171L|NT5E_ENST00000369646.3_Missense_Mutation_p.V171L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	171					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGATGAAGTTGTGGGAATCGT	0.378000													13	22					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351931	156351931	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:156351931C>T	ENST00000400992.2	+	7	1323	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	RHBG_ENST00000368246.2_Silent_p.L351L|RHBG_ENST00000451864.2_Silent_p.L273L|RHBG_ENST00000255013.3_Silent_p.L282L|RHBG_ENST00000537040.1_Silent_p.S183S|RHBG_ENST00000368249.1_Silent_p.L351L			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	351					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)					GCCGGGGGTCCTGGGGGCCCT	0.562000													69	81					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476237	161476237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:161476237C>T	ENST00000271450.6	+	3	258	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Nonsense_Mutation_p.Q73*	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	74	Ig-like C2-type 1.					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)	CGACTCCATTCAGTGGTTCCA	0.587000													39	77					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540041	28540041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:28540041G>A	ENST00000452236.2	-	4	4242	c.3625C>T	c.(3625-3627)Cca>Tca	p.P1209S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1209					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaaagaaatggattttggatc	0.303000													8	11					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749062	152749062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:152749062G>A	ENST00000334371.2	+	1	215	c.215G>A	c.(214-216)gGa>gAa	p.G72E		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	72	Poly-Gly.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCTGGGGGAGGCGGCTGT	0.692000													40	69					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071300	70071300	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:70071300G>A	ENST00000370598.1	+	29	4956	c.4135G>A	c.(4135-4137)Gaa>Aaa	p.E1379K	BAI3_ENST00000546190.1_Missense_Mutation_p.E343K|BAI3_ENST00000238918.8_Missense_Mutation_p.E585K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1379					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGCCCTTTGAACCTCGCAC	0.418000													56	63					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930597	68930597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:68930597C>T	ENST00000356291.2	-	8	880	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	274	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R274Q(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTCACATTTCGTTTCACTGC	0.343000													10	13					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241272	34241272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:34241272G>A	ENST00000374114.3	-	3	2236	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P658L|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	658	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCCACACCGGGCAGTCCCGC	0.577000													26	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431408	179431408	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179431408G>A	ENST00000589042.1	-	326	79675	c.79451C>T	c.(79450-79452)cCt>cTt	p.P26484L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17419L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17611L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24843L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23916L|TTN_ENST00000359218.5_Missense_Mutation_p.P17544L|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24843	Fibronectin type-III 92.						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)			TTTGAACACAGGATCACAGGC	0.448000													74	135					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085353	5085353	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:5085353C>T	ENST00000399604.4	-	1	2339	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	ZNF594_ENST00000575779.1_Silent_p.E733E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTCAAGTTTCTCTCCAGCAT	0.423000													67	95					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25356008	25356008	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:25356008G>A	ENST00000255324.5	+	6	589	c.537G>A	c.(535-537)acG>acA	p.T179T	RNF17_ENST00000381921.1_Silent_p.T179T|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.T179T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	179					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAAGCAAACGATAGAGGAAA	0.313000													19	28					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745770	77745770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:77745770G>A	ENST00000409088.3	-	3	1639	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.Q410*|LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.Q409*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.Q410*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.Q409*	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	409						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGAATCTGAAACCCTGGG	0.488000													17	35					0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119563	17119563	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:17119563C>T	ENST00000426585.1	+	0	375																											TTCGGAGTATCGTTCTATTTC	0.353000													31	30					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501987	55501987	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55501987G>A	ENST00000543010.1	+	10	2798	c.2655G>A	c.(2653-2655)gtG>gtA	p.V885V	NLRP2_ENST00000339757.7_Silent_p.V863V|NLRP2_ENST00000427260.2_Silent_p.V862V|NLRP2_ENST00000537859.1_Silent_p.V863V|NLRP2_ENST00000538819.1_Silent_p.V861V|NLRP2_ENST00000448584.2_Silent_p.V885V|NLRP2_ENST00000263437.6_Silent_p.V882V|NLRP2_ENST00000391721.4_Silent_p.V861V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	885					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATACAGGGGTGAAGTTTCTGT	0.547000													38	55					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725766	45725766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:45725766C>T	ENST00000327619.5	+	9	1221	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	EYA2_ENST00000317304.6_Missense_Mutation_p.H283Y|EYA2_ENST00000357410.3_Missense_Mutation_p.H283Y	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	283					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AATTATTTTTCACTCCTTACT	0.413000													52	97					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095026	167095026	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:167095026A>G	ENST00000361200.2	+	6	824	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	DUSP27_ENST00000443333.1_Missense_Mutation_p.K220E|DUSP27_ENST00000271385.5_Missense_Mutation_p.K220E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	220	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CATTTCAGGGAAAGTCCTGGT	0.453000													12	24					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													39	69					0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56728676	56728676	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:56728676G>A	ENST00000371168.3	+	2	206	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	49										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AACCCCTTTTGAGGAGGTAAA	0.398000													20	35					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334232	108334232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:108334232C>T	ENST00000520734.1	-	3	385	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ANGPT1_ENST00000520052.1_Missense_Mutation_p.E34K			Q15389	ANGP1_HUMAN	angiopoietin 1	234					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AATTGCTTTTCCAGCTCCTGG	0.428000													70	55					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47126970	47126970	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:47126970G>A	ENST00000291294.2	-	2	646	c.513C>T	c.(511-513)ttC>ttT	p.F171F	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.F171F|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	171					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCATGCGGAGGAAGCACCAGC	0.711000													3	3					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748490	67748490	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:67748490C>T	ENST00000433211.1	-	16	2399	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CTNNA3_ENST00000373735.1_Missense_Mutation_p.G81E|CTNNA3_ENST00000373744.4_Missense_Mutation_p.G742E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	742					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						CATCCTTGATCCTGATTCTGA	0.388000													26	11					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208913	3208913	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:3208913G>A	ENST00000380059.3	-	19	2780	c.2679C>T	c.(2677-2679)atC>atT	p.I893I	SLC4A11_ENST00000380056.3_Silent_p.I866I|SLC4A11_ENST00000539553.1_Silent_p.I850I|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	866					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ACCGGATGGGGATCATGGCGA	0.647000													16	33					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217947835	217947835	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:217947835C>T	ENST00000366933.4	+	7	734	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	227						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CCGTTCTTTTCCTCGGTCTGA	0.398000													15	42					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27925074	27925074	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:27925074C>T	ENST00000413272.2	-	6	810	c.668G>A	c.(667-669)aGg>aAg	p.R223K	NUGGC_ENST00000341513.6_Missense_Mutation_p.R223K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GGGGATCTTCCTTTTGGGCTT	0.488000													9	6					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49385371	49385371	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:49385371C>T	ENST00000221399.3	-	12	1509	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	455					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGACACCGTTCTCCTTGTCCC	0.512000													44	51					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167223161	167223161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:167223161C>T	ENST00000308378.3	-	13	2067	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	WDR49_ENST00000453925.2_Missense_Mutation_p.E553K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E413K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	588										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTACTTCTTTCCTTATATTTT	0.279000													9	15					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3363113	3363113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:3363113C>T	ENST00000574298.1	+	4	511	c.38C>T	c.(37-39)cCc>cTc	p.P13L	ZNF75A_ENST00000498240.2_Intron	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTATTGGATCCCACTCAGAAG	0.423000													16	31					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:176993856C>T	ENST00000367654.2	-	6	1146	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R378Q			O14525	ASTN1_HUMAN	astrotactin 1	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGACTTCGGGGAGAACC	0.493000													12	22					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99328745	99328745	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:99328745C>T	ENST00000336374.2	-	2	104	c.102G>A	c.(100-102)aaG>aaA	p.K34K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	34					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTCCAAGCTTCTTAAAAAGTC	0.428000													22	49					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798997	5798997	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:5798997A>G	ENST00000317093.2	-	1	900	c.868T>C	c.(868-870)Tat>Cat	p.Y290H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAAGAAGATAAAGATTAGCC	0.428000													25	54					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458015	248458015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248458015C>T	ENST00000317996.1	-	1	865	c.866G>A	c.(865-867)aGt>aAt	p.S289N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GTTCCTCACACTGTAGATGAG	0.478000													53	134					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435861	158435861	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158435861C>T	ENST00000289451.2	+	1	590	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTCCACTCCTCCAACCAGC	0.537000													72	183					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921531	24921531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:24921531G>A	ENST00000329468.2	+	1	991	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGAAGGGGAGGATGACGAGAA	0.622000													13	27					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312542	25312542	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:25312542C>T	ENST00000524413.1	+	3	737	c.390C>T	c.(388-390)tcC>tcT	p.S130S	THNSL1_ENST00000376356.4_Silent_p.S130S			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	130					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GTGTGATTTCCCTTACTGGGT	0.383000													19	49					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454436	79454436	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:79454436A>T	ENST00000554719.1	+	12	2586	c.2095A>T	c.(2095-2097)Acc>Tcc	p.T699S	NRXN3_ENST00000335750.5_Missense_Mutation_p.T699S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAGGGCTTCACCTGTGATTG	0.448000													28	67					0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113153507	113153507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:113153507G>A	ENST00000358039.4	-	3	711	c.407C>T	c.(406-408)cCt>cTt	p.P136L	ST7L_ENST00000544629.1_Missense_Mutation_p.P136L|ST7L_ENST00000369668.2_Missense_Mutation_p.P136L|ST7L_ENST00000343210.7_Missense_Mutation_p.P136L|ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.P119L|ST7L_ENST00000369666.1_Missense_Mutation_p.P119L|ST7L_ENST00000490067.1_Missense_Mutation_p.P119L|ST7L_ENST00000538187.1_Missense_Mutation_p.P80L|ST7L_ENST00000360743.4_Missense_Mutation_p.P136L|ST7L_ENST00000463235.1_5'UTR	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	136					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCTCGAAGGAGAACCTGG	0.413000													33	18					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7519914	7519914	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:7519914C>T	ENST00000313599.3	-	18	4254	c.4197G>A	c.(4195-4197)agG>agA	p.R1399R	CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Silent_p.R1409R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1399						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGAACCCCTCCTTCTGGTTG	0.453000													4	22					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71387649	71387649	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:71387649G>A	ENST00000392650.3	-	28	3927	c.3927C>T	c.(3925-3927)ttC>ttT	p.F1309F	SDK2_ENST00000388726.3_Silent_p.F1309F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1309	Fibronectin type-III 8.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCACCTCTGGGAACAGGATGC	0.667000													6	16					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181315	57181315	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:57181315C>T	ENST00000504228.1	+	6	1752	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	KIAA1211_ENST00000541073.1_Silent_p.L542L|KIAA1211_ENST00000264229.6_Silent_p.L549L			Q6ZU35	K1211_HUMAN	KIAA1211	549										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGATTCTCTTTCCCAAAG	0.652000													8	10					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940293	218940293	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:218940293G>A	ENST00000374155.3	+	8	1548	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.G360R|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	360							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCAGTATCAGGGAGCAGGCA	0.597000													15	16					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204871	66204871	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:66204871G>A	ENST00000310999.7	-	3	356	c.263C>T	c.(262-264)tCc>tTc	p.S88F	MRPL11_ENST00000430466.2_Missense_Mutation_p.S62F|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_Missense_Mutation_p.S88F	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	88					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CAGGAAGTAGGAAACAGTGGG	0.502000													22	6					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560905	9560905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:9560905G>A	ENST00000378429.3	-	5	1423	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q293*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q293*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	293	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCGGTTCCTGGAGTCCCGAG	0.552000													46	98					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23190949	23190949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:23190949C>T	ENST00000389131.3	-	5	1300	c.931G>A	c.(931-933)Gga>Aga	p.G311R	LOXL2_ENST00000518472.1_5'UTR	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	311					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTGAGGGTCCGTCAGGGCTG	0.627000													36	90					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967482	106967482	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106967482C>T	ENST00000390622.2	-	0	306																											AGGTCCAGTCCATGGTGAAGA	0.498000													25	49					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270496	28270496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28270496C>T	ENST00000305242.5	-	7	927	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ARMC4_ENST00000239715.3_Missense_Mutation_p.E136K|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	279							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGTCCCCTTCATCATCTGTT	0.308000													31	36					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449350	104449350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104449350C>T	ENST00000361820.3	-	2	1432	c.832G>A	c.(832-834)Gac>Aac	p.D278N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	278					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGAGGAAGTCGGTGATGTTC	0.468000													34	69					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050936	103050936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:103050936G>A	ENST00000306312.3	-	7	892	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211C|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211C|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211C|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211C|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211C|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211C|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174C|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211C	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	211					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GTAAACCCACGGACCAGAGGC	0.413000													14	42					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937273	46937273	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:46937273G>A	ENST00000313049.5	+	3	430	c.227G>A	c.(226-228)gGg>gAg	p.G76E	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Missense_Mutation_p.G76E|PTH1R_ENST00000449590.1_Missense_Mutation_p.G76E|PTH1R_ENST00000430002.2_Missense_Mutation_p.G76E			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	76						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCCACATCAGGGAAGCCCAGG	0.542000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	37					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050937	103050937	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:103050937G>A	ENST00000306312.3	-	7	891	c.630C>T	c.(628-630)gtC>gtT	p.V210V	SLC26A5_ENST00000393735.2_Silent_p.V210V|SLC26A5_ENST00000339444.6_Silent_p.V210V|SLC26A5_ENST00000432958.2_Silent_p.V210V|SLC26A5_ENST00000356767.4_Silent_p.V210V|SLC26A5_ENST00000393730.1_Silent_p.V210V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Silent_p.V210V|SLC26A5_ENST00000393729.1_Silent_p.V173V|SLC26A5_ENST00000393723.1_Silent_p.V210V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	210					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TAAACCCACGGACCAGAGGCT	0.413000													13	42					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7015736	7015736	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:7015736C>T	ENST00000389658.3	-	22	3204	c.3111G>A	c.(3109-3111)gcG>gcA	p.A1037A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1037	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCCACCTCCGCATCGTAGC	0.522000													38	77					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480305	37480305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:37480305G>A	ENST00000442782.2	-	10	1369	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	TMPRSS6_ENST00000406725.1_Intron|TMPRSS6_ENST00000406856.1_Intron|TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000346753.3_Intron			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	417	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						agggaggaaaggaagccagag	0.592000													6	7					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:107845215C>T	ENST00000285311.3	-	4	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_ENST00000510463.1_Missense_Mutation_p.E180K|DKK2_ENST00000513208.1_Missense_Mutation_p.E126K	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	226	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000													54	93					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084330	66084330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:66084330C>T	ENST00000311330.3	-	1	185	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	57	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGGCCAGGTCGCCCCCCAGC	0.756000													7	8					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26851355	26851355	+	Silent	SNP	G	G	A	rs145385726	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:26851355G>A	ENST00000376236.4	+	14	1925	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	490					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTGAAACATCGAAGGTAAAAC	0.458000													69	94					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274081	39274081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39274081G>A	ENST00000391413.2	-	1	525	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	163	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACAGACTGGACGCAGGcag	0.662000													4	23					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54786654	54786654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:54786654G>A	ENST00000474759.1	+	12	1244	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R399Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R305Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R399Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	399	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R399L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCATTGGACGAGAGGCTGCG	0.512000													6	10					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10550725	10550725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10550725G>A	ENST00000583535.1	-	9	841	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	MYH3_ENST00000226209.7_Missense_Mutation_p.H252Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	252	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTCCAAAATGGATTCGGATG	0.473000													37	56					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926274	70926274	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:70926274G>A	ENST00000603540.1	+	2	2316	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.L686L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	686					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGCCGCTGATTGTGATTC	0.483000													17	22					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263120	51263120	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:51263120G>A	ENST00000266037.9	+	15	1316	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	431	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGAGAAGGGGGATTTCGAGA	0.463000													42	88					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17165618	17165618	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:17165618G>A	ENST00000377833.4	-	5	523	c.458C>T	c.(457-459)tCc>tTc	p.S153F	CUBN_ENST00000377823.1_Missense_Mutation_p.S153F	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	153	EGF-like 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAAAAGGAATCATGCAG	0.443000													10	14					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103194177	103194177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:103194177C>T	ENST00000428762.1	-	39	6058	c.5899G>A	c.(5899-5901)Gaa>Aaa	p.E1967K	RELN_ENST00000424685.2_Missense_Mutation_p.E1967K|RELN_ENST00000343529.5_Missense_Mutation_p.E1967K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1967					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATTGTCTTCTCTGGGCCCA	0.358000													49	28					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356953	2356953	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:2356953C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TACTGCGGTCCGAGGTAACGA	0.512000													114	108					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24994176	24994176	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:24994176G>A	ENST00000537502.1	-	8	2857	c.1326C>T	c.(1324-1326)taC>taT	p.Y442Y	ACSS1_ENST00000323482.4_Silent_p.Y525Y|ACSS1_ENST00000542618.1_Silent_p.Y404Y|ACSS1_ENST00000432802.2_Silent_p.Y525Y			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	525					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCACCTGGGTAGGCCTTGA	0.552000													14	20					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891447	18891447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:18891447G>A	ENST00000317658.3	+	1	403	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	82					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGCGACTACCGATTTTTTGAC	0.418000													28	34					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													59	76					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129431887	129431887	+	Missense_Mutation	SNP	G	G	C	rs144885531		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:129431887G>C	ENST00000442111.2	+	10	752	c.664G>C	c.(664-666)Gct>Cct	p.A222P	GLT1D1_ENST00000281703.6_Missense_Mutation_p.A142P|GLT1D1_ENST00000537468.1_Missense_Mutation_p.A227P|GLT1D1_ENST00000542193.1_Missense_Mutation_p.A139P			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	222					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTCAGAGCCGCTGGGGTACG	0.502000													6	34					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348308	7348308	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:7348308C>T	ENST00000486284.1	+	4	1276	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	GRM7_ENST00000402647.2_Silent_p.I334I|GRM7_ENST00000403881.1_Silent_p.I334I|GRM7_ENST00000357716.4_Silent_p.I334I|GRM7_ENST00000389336.4_Silent_p.I334I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	334					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAGGGGCCATCACCATTCAGC	0.522000													21	45					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867078	34867078	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:34867078C>T	ENST00000360581.1	+	5	672	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	NPSR1_ENST00000359791.1_Silent_p.L182L|NPSR1_ENST00000531252.1_Silent_p.L171L|NPSR1_ENST00000381542.1_Silent_p.L116L|NPSR1_ENST00000381539.3_Silent_p.L182L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	182						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATTCCCACCCTGATCATATT	0.532000													23	57					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189904220	189904220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:189904220C>T	ENST00000374866.3	-	51	3977	c.3703G>A	c.(3703-3705)Gat>Aat	p.D1235N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1235					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCATGATATCCCCAAGAGCA	0.527000													9	17					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922468	55922468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:55922468C>T	ENST00000244728.5	-	30	3258	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G951E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G954E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G320E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATAGTTTGGTCCTTTTCTGAA	0.473000													10	13					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079135	57079135	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:57079135G>A	ENST00000316981.3	-	5	1649	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	PLAG1_ENST00000423799.2_Silent_p.S308S|PLAG1_ENST00000429357.2_Silent_p.S390S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	390	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CATCATCTAGGGACCCAATCT	0.468000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								37	89					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054769	242054769	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:242054769G>A	ENST00000403638.3	-	13	3223	c.3132C>T	c.(3130-3132)ccC>ccT	p.P1044P	PASK_ENST00000405260.1_Silent_p.P1044P|PASK_ENST00000358649.4_Silent_p.P1044P|PASK_ENST00000234040.4_Silent_p.P1044P|PASK_ENST00000539818.1_Silent_p.P828P|PASK_ENST00000544142.1_Silent_p.P858P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1044	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)		TCCCAAGTTTGGGATCCTCAA	0.458000													30	38					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076611	87076611	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:87076611G>A	ENST00000276616.2	-	2	509	c.435C>T	c.(433-435)ctC>ctT	p.L145L	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTCGATCAAAGAGCTCCCCTC	0.517000													39	64					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885332	13885332	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:13885332G>A	ENST00000327606.3	-	2	366	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	62					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGCTACAGATGAAAAAGTACA	0.408000													22	44					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913718	39913718	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39913718G>A	ENST00000393931.3	-	12	2113	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	JUP_ENST00000393930.1_Silent_p.S665S|JUP_ENST00000310706.5_Silent_p.S665S|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	665					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCTCCACGGACACGCGCT	0.582000													47	83					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909399	123909399	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:123909399G>A	ENST00000330487.5	-	1	318	c.310C>T	c.(310-312)Cac>Tac	p.H104Y		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCCAGGAAGTGGAAAAAATAG	0.537000													19	94					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183454550	183454550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:183454550C>T	ENST00000305135.5	+	8	1052	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	286	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTGAGTTTCCCGTCAGAGTT	0.418000													31	47					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124043377	124043377	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:124043377C>T	ENST00000368994.2	+	4	433	c.182C>T	c.(181-183)tCa>tTa	p.S61L	BTBD16_ENST00000260723.4_Missense_Mutation_p.S60L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	60										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTATGCATTTCACAAATCCAG	0.358000													19	3					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903316	4903316	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4903316T>C	ENST00000380378.1	+	1	268	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.Y63H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCATGTATTATTTCCTCTC	0.478000													24	77					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511234	56511234	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:56511234C>T	ENST00000302957.3	-	1	53	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCAATTTCCCACTTCCATGT	0.418000													33	16					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711333	140711333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:140711333C>T	ENST00000517417.1	+	1	1082	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P361L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACTTTCCTCCTGGGACC	0.423000													16	32					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76564889	76564889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:76564889C>T	ENST00000369981.3	+	12	1391	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	MYO6_ENST00000369985.4_Missense_Mutation_p.S371F|MYO6_ENST00000369975.1_Missense_Mutation_p.S371F|MYO6_ENST00000369977.3_Missense_Mutation_p.S371F			Q9UM54	MYO6_HUMAN	myosin VI	371	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCTGCTCAGTCTTTGGAATAT	0.353000													9	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595913	179595913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179595913C>T	ENST00000589042.1	-	60	17703	c.17479G>A	c.(17479-17481)Gag>Aag	p.E5827K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5510K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4583K|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5510	Ig-like 39.						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)			ACAGCTTCCTCGGTGATTGTT	0.448000													72	140					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76720889	76720889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:76720889C>T	ENST00000369950.3	-	8	1049	c.860G>A	c.(859-861)gGa>gAa	p.G287E	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	287	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTACCTAAATCCTAACACATG	0.308000													4	6					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245758	7245758	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:7245758C>G	ENST00000158762.3	+	5	515	c.309C>G	c.(307-309)caC>caG	p.H103Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	103	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CCACCCAACACACACTGCAGC	0.592000													26	44					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771275	43771275	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:43771275G>A	ENST00000389420.3	-	32	4887	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding	p.R1630W(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATAGGCCGAAGTCGATGG	0.408000													22	15					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075860	144075860	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:144075860C>T	ENST00000056217.5	+	14	4711	c.4537C>T	c.(4537-4539)Ccc>Tcc	p.P1513S	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.P435S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1513	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAAAGACTCCCCCCAGGTACA	0.567000													65	225					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545679	82545679	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:82545679C>T	ENST00000423517.2	-	7	11960	c.11623G>A	c.(11623-11625)Gaa>Aaa	p.E3875K	PCLO_ENST00000437081.1_Missense_Mutation_p.E595K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3875K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3806	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTGAGATTCTGTTTGGGTT	0.478000													181	436					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271851	164271851	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:164271851G>A	ENST00000515560.1	+	4	1948	c.426G>A	c.(424-426)atG>atA	p.M142I	NPY5R_ENST00000506953.1_Missense_Mutation_p.M142I|NPY5R_ENST00000338566.3_Missense_Mutation_p.M142I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	142					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTATCATATGATAAAACATC	0.363000													50	93					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96237351	96237351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:96237351C>T	ENST00000437043.3	+	11	2425	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q527*|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	572					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGGTTTTCCAGGAAGACCC	0.517000													11	23					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333019	18333019	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:18333019G>A	ENST00000355502.3	-	6	1228	c.357C>T	c.(355-357)tcC>tcT	p.S119S	PDE4C_ENST00000447275.2_Silent_p.S13S|PDE4C_ENST00000594617.2_Silent_p.S119S|PDE4C_ENST00000594465.2_Silent_p.S119S|PDE4C_ENST00000262805.11_Silent_p.S87S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	119					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGTACAGGAAGGACTCGCGCC	0.647000													18	35					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104105274	104105274	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:104105274G>A	ENST00000388887.2	+	40	4518	c.4314G>A	c.(4312-4314)ggG>ggA	p.G1438G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1438	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACTGCAATGGGACATGCCATA	0.463000													42	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870469	237870469	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:237870469C>T	ENST00000366574.2	+	68	10118	c.9801C>T	c.(9799-9801)gcC>gcT	p.A3267A	RYR2_ENST00000542537.1_Silent_p.A3251A|RYR2_ENST00000360064.6_Silent_p.A3265A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3267					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCACAGCCCTGAACTCAG	0.483000													17	19					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:20389662G>A	ENST00000315915.4	+	1	922	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					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)		CTGCCGTAAGGAAAATTGTGA	0.383000													27	160					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775984	14775984	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:14775984G>T	ENST00000380881.4	-	26	5478	c.4663C>A	c.(4663-4665)Cag>Aag	p.Q1555K	FREM1_ENST00000422223.2_Missense_Mutation_p.Q1554K|FREM1_ENST00000380880.3_Missense_Mutation_p.Q1554K|FREM1_ENST00000380894.1_Missense_Mutation_p.Q90K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1554					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGTAGAGCTGGCCATGCTGG	0.597000													45	22					2.35958e-20	2.3755e-20	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20530587	20530587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:20530587G>A	ENST00000504154.1	+	16	1730	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	SLIT2_ENST00000273739.5_Missense_Mutation_p.R497Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R489Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.R485Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	493					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGATTATCGATCAAAATTA	0.348000													32	49					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196469	22196469	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:22196469T>C	ENST00000344041.6	-	16	1448	c.1136A>G	c.(1135-1137)aAc>aGc	p.N379S	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.N229S	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	229	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CTGGAGCCAGTTCTCCTTAAG	0.453000													22	66					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73979646	73979646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:73979646C>T	ENST00000297354.6	-	5	929	c.725G>A	c.(724-726)gGa>gAa	p.G242E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	242					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										TTTCCAAGTTCCTTGACACCG	0.368000													28	58					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071642	25071642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:25071642G>A	ENST00000533227.1	+	10	853	c.566G>A	c.(565-567)gGa>gAa	p.G189E	LUZP2_ENST00000336930.6_Missense_Mutation_p.G275E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	275	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACAAAGGAAGGAAATCCAAGT	0.368000													22	51					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976194	4976194	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4976194G>A	ENST00000380371.1	-	1	749	c.750C>T	c.(748-750)atC>atT	p.I250I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGAAGATGATCACTGCAC	0.483000													15	70					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160303462	160303462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:160303462G>A	ENST00000241704.7	-	5	546	c.317C>T	c.(316-318)cCc>cTc	p.P106L	COPA_ENST00000368069.3_Missense_Mutation_p.P106L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	106					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGAATCCAGGGATATTCCTG	0.418000													13	9					0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56735727	56735727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:56735727C>T	ENST00000371168.3	+	4	324	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GTCTTTCCATCCCCCCCAGTC	0.582000													18	24					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554522	19554522	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:19554522G>A	ENST00000328405.2	+	13	2406	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	714	Poly-Glu.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ggaagatgaggaagaggagga	0.483000													17	21					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273882	212273882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:212273882C>T	ENST00000366991.4	+	14	1864	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	DTL_ENST00000542077.1_Missense_Mutation_p.P475L|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	517					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCCATCACTCCACCTGCTTCG	0.512000													20	56					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854056	64854056	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64854056C>T	ENST00000294258.3	+	4	536	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	128					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCAACTGGGCCCGGGCAGGAC	0.642000													39	27					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868499	189868499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:189868499C>T	ENST00000304636.3	+	38	2817	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	883	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTTCCTGGTCCTCCTGGTAG	0.368000													13	49					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902209	66902209	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:66902209C>T	ENST00000269080.2	-	17	2391	c.2254G>A	c.(2254-2256)Gga>Aga	p.G752R	ABCA8_ENST00000430352.2_Missense_Mutation_p.G792R|ABCA8_ENST00000586539.1_Missense_Mutation_p.G792R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	752						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTAGATTTTCCTTCTAGCTTC	0.313000													38	38					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89157181	89157181	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:89157181G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							GAAGACAGATGGTGCAGCCAC	0.473000													5	7					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117232106	117232106	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:117232106C>T	ENST00000332958.2	+	7	697	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	227					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGGTGGCTTCACTCGTAAAT	0.343000													21	37					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385788	54385788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54385788G>A	ENST00000263431.3	+	1	322	c.40G>A	c.(40-42)Gga>Aga	p.G14R	PRKCG_ENST00000540413.1_Missense_Mutation_p.G14R|PRKCG_ENST00000536044.1_Missense_Mutation_p.G14R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	14					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTCAGAGGGGGGACCCCGGCC	0.627000													75	114					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358265	72358265	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:72358265G>A	ENST00000441259.1	-	3	1372	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PRF1_ENST00000373209.2_Silent_p.T404T	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	404	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGCAGTCCTGGGTGGTGACCG	0.692000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				18	8					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691322	44691322	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:44691322G>A	ENST00000290231.6	-	8	1521	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCAACCGAGGGGGATGCAGAG	0.552000													77	103					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177966	20177966	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:20177966C>T	ENST00000524983.2	-	4	1114	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	DBX1_ENST00000227256.3_Missense_Mutation_p.E315K			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	276	Poly-Glu.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCTCCTCTTCGTTCCCAGGG	0.726000													19	22					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521711	89521711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:89521711G>A	ENST00000336596.2	+	16	3013	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	930	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.E930K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACTGCAAGGAAATCTTCAC	0.423000										TSP Lung(6;0.00050)			32	75					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240825	39240825	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39240825C>T	ENST00000391417.4	+	1	367	c.367C>T	c.(367-369)Cca>Tca	p.P123S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgcCTGCGTCCAGTCTGTGG	0.657000													5	11					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62562413	62562413	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:62562413T>A	ENST00000532297.1	-	19	2200	c.1571A>T	c.(1570-1572)aAt>aTt	p.N524I	NXF1_ENST00000294172.2_Missense_Mutation_p.N524I|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	524	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACCCTGAATTGCTAGCAGG	0.478000													13	8					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763452	113763452	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:113763452G>A	ENST00000259211.6	+	1	415	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	2					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCACAATGGAAAAAGGTAA	0.443000													23	35					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150401	203150401	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:203150401G>A	ENST00000255409.3	-	7	725	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	200					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGATGCTAATGAAATCCAGGT	0.527000													24	57					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050152	120050152	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:120050152G>A	ENST00000235547.6	+	2	198	c.59G>A	c.(58-60)aGg>aAg	p.R20K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.R18K|HSD3B1_ENST00000369413.3_Missense_Mutation_p.R18K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	18					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGGGACAGAGGATCATCCGC	0.517000													35	40					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112884163	112884163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:112884163C>T	ENST00000351677.2	+	2	296	c.98C>T	c.(97-99)cCt>cTt	p.P33L	PTPN11_ENST00000392597.1_Missense_Mutation_p.P33L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	33	SH2 1.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGGCAAGGCCTAGTAAAAGT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				44	84					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294133	31294133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:31294133G>A	ENST00000265071.2	+	3	558	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CDH6_ENST00000514738.1_Missense_Mutation_p.G43E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATGGAGCAGGAGATCTCTTC	0.388000													29	83					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074022	53074022	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:53074022C>T	ENST00000276480.7	-	14	2190	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	503						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGGCATAATCAAATGGTACT	0.423000													46	82					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903059	5903059	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:5903059C>T	ENST00000378961.4	+	4	473	c.269C>T	c.(268-270)gCt>gTt	p.A90V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	90						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAGACCCAGCTGATGCCTCG	0.478000													12	18					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433984	37433984	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:37433984G>A	ENST00000374660.1	+	8	1386	c.1287_splice	c.e8+1	p.R429_splice	ANKRD30A_ENST00000361713.1_Splice_Site_p.R429_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.R429_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGATTCTCGGGTATTGTGTA	0.308000													16	38					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199609	117199609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:117199609C>T	ENST00000003084.6	+	11	1616	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	CFTR_ENST00000454343.1_Missense_Mutation_p.S434F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	495	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGTTTTCCTGGATTATG	0.383000									Cystic Fibrosis				55	61					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10557237	10557237	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:10557237C>T	ENST00000316170.3	+	1	998	c.581C>T	c.(580-582)cCc>cTc	p.P194L	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CAAGACTTCCCCCTGAAAACC	0.493000													38	53					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355792	43355792	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:43355792G>A	ENST00000372865.4	+	3	858	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372868.2_Silent_p.T199T|WISP2_ENST00000190983.4_Silent_p.T199T|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	108	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AATGGAGCACGGCCTGGGGAC	0.652000													26	48					0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113333874	113333874	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:113333874T>A	ENST00000356049.1	+	2	939	c.181T>A	c.(181-183)Tgg>Agg	p.W61R		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	61										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GGCTGCGTCATGGGACCAGCC	0.637000													24	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45773622	45773622	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:45773622G>A	ENST00000397928.1	+	1	484	c.39G>A	c.(37-39)caG>caA	p.Q13Q	TRPM2_ENST00000397932.2_Silent_p.Q13Q|TRPM2_ENST00000300482.5_Silent_p.Q13Q|TRPM2_ENST00000300481.9_Silent_p.Q13Q	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	13						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTCGGAGCAGGAGGAGGGCT	0.637000													9	4					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418929	31418929	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:31418929G>A	ENST00000389202.2	+	8	847	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	266	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGACCCCCTGGAATACAGTG	0.547000													43	52					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58756091	58756091	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:58756091G>A	ENST00000245206.5	-	3	466	c.338C>T	c.(337-339)gCc>gTc	p.A113V	GOT2_ENST00000434819.2_Intron|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	113					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACCCAGGGCTAGTTCTGC	0.483000													59	14					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50280404	50280404	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:50280404C>T	ENST00000261667.3	-	13	1551	c.1137_splice	c.e13+1	p.K379_splice		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	379	NLS binding site (minor) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TATGACCAACCTTAGCAAGCT	0.373000													16	35					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058361	11058361	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:11058361C>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATAAAACCTTGAAAAGGA	0.353000													4	45					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78328649	78328649	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:78328649C>T	ENST00000255189.3	-	9	1406	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	DMGDH_ENST00000540686.1_Missense_Mutation_p.E80K|DMGDH_ENST00000380311.4_Missense_Mutation_p.E259K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	460					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AACCGTTCTTCTTTAGGATAA	0.438000													36	78					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821683	97821683	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:97821683T>G	ENST00000297293.5	+	11	2199	c.1906T>G	c.(1906-1908)Ttt>Gtt	p.F636V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	636					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAACAATATATTTAATGATGT	0.438000													69	52					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512053	169512053	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:169512053C>T	ENST00000367796.3	-	13	2491	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K	F5_ENST00000367797.3_Missense_Mutation_p.E759K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	759	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGCCATTCTCCAGAGCTAGG	0.388000													63	133					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992264	51992264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:51992264G>A	ENST00000461554.1	-	14	1356	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCBP4_ENST00000395013.3_Missense_Mutation_p.P182L|PCBP4_ENST00000355852.2_Missense_Mutation_p.P342L|PCBP4_ENST00000484633.1_Missense_Mutation_p.P299L|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000428823.2_Missense_Mutation_p.P299L|PCBP4_ENST00000322099.7_Missense_Mutation_p.P342L|PCBP4_ENST00000395014.2_Missense_Mutation_p.P363L	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	342						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGGCCAGGGGGAGCTGTGGG	0.677000													36	60					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355675	5355675	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:5355675G>A	ENST00000399537.4	-	25	7122	c.6774C>T	c.(6772-6774)gaC>gaT	p.D2258D	TNRC18_ENST00000430969.1_Silent_p.D2258D			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2258							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGTGATCAAGTCCCCATCGT	0.592000													43	33					0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57146014	57146014	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:57146014G>A	ENST00000338193.6	-	1	105	c.69C>T	c.(67-69)taC>taT	p.Y23Y	HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000555159.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	23					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						AGTACTGAGAGTAGGGAAAGA	0.572000													7	9					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048794	70048794	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:70048794C>T	ENST00000330891.5	-	10	2126	c.1900G>A	c.(1900-1902)Gct>Act	p.A634T	BEST3_ENST00000488961.1_Missense_Mutation_p.A421T|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.A528T	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	634						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CGAGAGCCAGCCACAATGTTG	0.458000													24	42					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261425	131261425	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:131261425G>A	ENST00000512055.1	-	19	3641	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	CPNE4_ENST00000502818.1_Silent_p.F523F|CPNE4_ENST00000429747.1_Silent_p.F505F|CPNE4_ENST00000511604.1_Silent_p.F505F|CPNE4_ENST00000512332.1_Silent_p.F523F			Q96A23	CPNE4_HUMAN	copine IV	505	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGAAGGGCACGAACTGGACGA	0.507000													29	37					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158294154	158294154	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:158294154G>A	ENST00000392185.3	+	3	291	c.120G>A	c.(118-120)ctG>ctA	p.L40L	RP11-52J3.2_ENST00000422776.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	40	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GAGGATGGCTGGAAGGAAGAA	0.403000													9	18					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488617	128488617	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:128488617C>T	ENST00000325888.8	+	27	4844	c.4583C>T	c.(4582-4584)cCc>cTc	p.P1528L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1528L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1528					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCTCAAGCCCCTTCAAGATC	0.627000													139	535					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35568517	35568517	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:35568517G>A	ENST00000261475.5	-	7	1000	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	216						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AACATAAAAGGAGTAGAAAGA	0.294000													7	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453297	179453297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179453297G>A	ENST00000589042.1	-	304	63379	c.63155C>T	c.(63154-63156)cCt>cTt	p.P21052L	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11987L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12179L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19411L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18484L|TTN_ENST00000359218.5_Missense_Mutation_p.P12112L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19411	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTCTTGAAGGCAAGCTTGG	0.423000													61	115					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590244	156590244	+	Silent	SNP	G	G	A	rs151185932		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:156590244G>A	ENST00000302938.4	-	2	1127	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	344						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCCACCAAGGCCAAGCTAA	0.572000													41	55					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48308943	48308943	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:48308943C>T	ENST00000297423.4	+	6	917	c.533C>T	c.(532-534)tCt>tTt	p.S178F	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S108F|SPIDR_ENST00000518074.1_Missense_Mutation_p.S118F	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		CAGCCAAGTTCTATAGAAATT	0.303000													20	27					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110152690	110152690	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:110152690C>G	ENST00000351050.3	-	3	461	c.275G>C	c.(274-276)gGc>gCc	p.G92A		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	92					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATAATCGATGCCCAGTGTGGT	0.478000													30	90					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:124180576G>A	ENST00000357821.2	-	1	157	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000													51	26					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139840	161139840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:161139840C>T	ENST00000308192.9	+	9	1129	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	356					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGACTCCTCCCCAGTATCCAC	0.517000													13	24					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042399	5042399	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:5042399G>A	ENST00000304328.5	+	14	2911	c.50G>A	c.(49-51)gGa>gAa	p.G17E	USP6_ENST00000250066.6_Intron|USP6_ENST00000574788.1_Intron|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCTCTGGGATCAGCAGAC	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								12	22					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338051	151338051	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:151338051G>A	ENST00000426705.2	-	9	1302	c.1158C>T	c.(1156-1158)cgC>cgT	p.R386R	SELENBP1_ENST00000368868.5_Silent_p.R344R|SELENBP1_ENST00000447402.3_Silent_p.R282R|SELENBP1_ENST00000435071.1_Silent_p.R280R	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	344					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GTCCTGTGAGGCGGGGTCTCT	0.592000													128	129					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628356	33628356	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:33628356G>A	ENST00000380099.3	+	2	1280	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.K117K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	424	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACCACCAAGAGAGATGATG	0.393000													56	89					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187818	94187818	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:94187818C>T	ENST00000393140.1	-	5	536	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Missense_Mutation_p.G145E	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	145					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CACGTCTACTCCTTTGTTGCT	0.572000													9	28					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481532	55481532	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55481532C>T	ENST00000543010.1	+	2	292	c.149C>T	c.(148-150)gCt>gTt	p.A50V	NLRP2_ENST00000339757.7_Missense_Mutation_p.A50V|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.A50V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A50V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A50V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A50V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A50V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	50	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTAGACAAGGCTGATGGGAAG	0.527000													22	44					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113544915	113544915	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:113544915C>T	ENST00000546530.1	-	16	1932	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	RASAL1_ENST00000446861.3_Silent_p.V548V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.V548V|RASAL1_ENST00000261729.5_Silent_p.V548V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	548					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCCCATCCACATCCACCA	0.612000													35	68					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175873	143175873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:143175873G>A	ENST00000408916.1	+	1	908	c.908G>A	c.(907-909)gGc>gAc	p.G303D	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	303					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTGGCAAGGGGCTTCTGGGTG	0.522000													19	16					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464957	104464957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:104464957G>A	ENST00000372578.3	-	2	236	c.125C>T	c.(124-126)tCc>tTc	p.S42F	TEX13A_ENST00000413579.1_Missense_Mutation_p.S42F|TEX13A_ENST00000372575.1_Missense_Mutation_p.S42F|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	42						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTTCTCCCAGGATAAGGATAT	0.567000													25	9					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195451910	195451910	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:195451910G>A	ENST00000320736.6	+	2	562	c.436G>A	c.(436-438)Gat>Aat	p.D146N	MUC20_ENST00000436408.1_Missense_Mutation_p.D146N|MUC20_ENST00000445522.2_Missense_Mutation_p.D111N|MUC20_ENST00000447234.2_Missense_Mutation_p.D146N	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	327			Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTTTGCACCGATGACAGCTC	0.557000													4	234					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39722333	39722333	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:39722333C>T	ENST00000553728.1	+	5	1839	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	MIA2_ENST00000280082.3_Silent_p.F615F																							TTTATGATTTCATGAATTCTG	0.259000													17	25					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395776	100395776	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:100395776C>T	ENST00000281806.2	-	3	568	c.254G>A	c.(253-255)gGa>gAa	p.G85E	MCHR2_ENST00000369212.1_Missense_Mutation_p.G85E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G85E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	85						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAAGGCATTCCAACTATGTG	0.478000													45	76					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76972087	76972087	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:76972087C>T	ENST00000262776.3	-	3	512	c.204G>A	c.(202-204)gaG>gaA	p.E68E	LGALS3BP_ENST00000591778.1_Silent_p.E68E|LGALS3BP_ENST00000585407.1_Silent_p.E68E	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	68	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGTGGCGTTCTCGAAGCCCA	0.652000													10	40					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37512509	37512509	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:37512509G>A	ENST00000264741.5	+	2	453	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ITGA9_ENST00000422441.1_Missense_Mutation_p.G66D	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	66					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTCCTTGTGGGCGCACCAAAG	0.522000													20	40					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592893	247592893	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:247592893G>A	ENST00000366497.2	+	5	2943	c.2163G>A	c.(2161-2163)gtG>gtA	p.V721V	NLRP3_ENST00000366496.2_Silent_p.V721V|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000336119.3_Silent_p.V721V|NLRP3_ENST00000391828.3_Silent_p.V721V|NLRP3_ENST00000391827.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	726					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTAGATTGGTGAACAGCCACC	0.507000													71	91					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286759	55286759	+	Silent	SNP	C	C	T	rs145375570	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:55286759C>T	ENST00000336077.6	+	4	553	c.513C>T	c.(511-513)ctC>ctT	p.L171L	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.L171L|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	171	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AACGTAGGCTCCCTGCAGGGC	0.587000													63	106					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590245	156590245	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:156590245G>A	ENST00000302938.4	-	2	1126	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	344						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCACCAAGGCCAAGCTAAT	0.567000													41	55					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224274	248224274	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248224274G>A	ENST00000359959.3	+	1	291	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGGGTGTGGGATTCAGAGTT	0.433000													143	135					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120362774	120362774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:120362774G>A	ENST00000602047.1	+	12	1296	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E348K|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		348						cilium	calmodulin binding					Colorectal(110;0.196)					CCAGGGCACTGAAATTTCAAA	0.393000													20	34					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103860	38103860	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:38103860G>A	ENST00000308059.6	+	4	894		c.e4+1		DLEC1_ENST00000346219.3_Splice_Site|DLEC1_ENST00000452631.2_Splice_Site			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1						negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCTCTCAAGGTCAGTTTGGA	0.498000													14	27					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333048	36333048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36333048G>A	ENST00000378910.5	-	19	2640	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P881S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	881	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGATCCAGAGGGACCCCGTTT	0.622000													6	7					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985390	6985390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:6985390C>T	ENST00000389658.3	-	39	5599	c.5506G>A	c.(5506-5508)Gat>Aat	p.D1836N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1836	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGGTGATCCTCTAAGTGC	0.383000													29	44					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94499740	94499740	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:94499740G>A	ENST00000375708.3	-	5	753	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F45F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	185	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTTGCCAATGAAGCGTGCAC	0.517000													45	61					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497620	1497620	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:1497620C>T	ENST00000421627.2	+	2	895	c.761C>T	c.(760-762)cCc>cTc	p.P254L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGCAGAGCCCCTTCGGGGAC	0.662000													71	33					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967581	4967581	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:4967581G>A	ENST00000380373.2	-	1	775	c.750C>T	c.(748-750)atC>atT	p.I250I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGAAGATGATCACTGCAC	0.478000													21	152					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	78					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17152000	17152000	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:17152000C>T	ENST00000357277.3	+	15	1803	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	REPS2_ENST00000380064.4_Silent_p.S343S|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.S543S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	544	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAGCCCCATCCCAGGCTGCAG	0.527000													56	23					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869240	31869240	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:31869240C>T	ENST00000334058.2	-	1	211	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	63						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGTAGGATTTCAGTAGAATTG	0.453000													66	26					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14566000	14566000	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:14566000C>T	ENST00000273083.3	-	0	368							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCAGGTGGATCCCGTTCACAG	0.592000													4	4					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28420578C>T	ENST00000337532.5	-	7	634	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_ENST00000375719.3_Missense_Mutation_p.D120N|MPP7_ENST00000375732.1_Missense_Mutation_p.D120N|MPP7_ENST00000540098.1_Missense_Mutation_p.D120N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	120	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACACTGGGTCGTAATTCTTC	0.358000													25	39					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101078454	101078454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:101078454G>A	ENST00000360863.6	-	7	859	c.665C>T	c.(664-666)tCg>tTg	p.S222L	RGS22_ENST00000523437.1_Missense_Mutation_p.S210L|RGS22_ENST00000523287.1_Missense_Mutation_p.S41L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	222					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACAGGGTAACGAAAAGGTTGA	0.368000													79	62					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100613	139100613	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:139100613G>A	ENST00000358701.5	-	12	2095	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	686					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCCACCGCCTGGACCTCACCC	0.632000													38	64					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195498553	195498553	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:195498553G>A	ENST00000463781.3	-	5	13671	c.13212C>T	c.(13210-13212)ttC>ttT	p.F4404F	MUC4_ENST00000349607.4_Silent_p.F117F|MUC4_ENST00000475231.1_Silent_p.F4404F|MUC4_ENST00000346145.4_Silent_p.F168F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1161					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCAGTGGAGAAGTCAGCAT	0.587000													23	31					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20869142	20869142	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:20869142G>A	ENST00000298925.5	+	5	586	c.433G>A	c.(433-435)Gag>Aag	p.E145K	NELL1_ENST00000532434.1_Missense_Mutation_p.E117K|NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.E117K			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	117	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTTGAACTGGAGAGCAGTGG	0.448000													19	27					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121426771	121426771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:121426771G>A	ENST00000257555.6	+	2	688	c.462G>A	c.(460-462)atG>atA	p.M154I	HNF1A_ENST00000544413.1_Missense_Mutation_p.M154I|HNF1A_ENST00000543427.1_Missense_Mutation_p.M37I|HNF1A_ENST00000541395.1_Missense_Mutation_p.M154I|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.M154I|HNF1A_ENST00000400024.2_Missense_Mutation_p.M154I			P20823	HNF1A_HUMAN	HNF1 homeobox A	154					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACTCCCATGAAGACGCAGA	0.617000									Hepatic Adenoma, Familial Clustering of				20	47					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96652000	96652000	+	Silent	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:96652000T>C	ENST00000302103.5	+	3	1295	c.969T>C	c.(967-969)acT>acC	p.T323T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	323					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AGGATTTCACTGTAAATCTTC	0.363000													20	41					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38938526	38938526	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:38938526C>T	ENST00000301656.3	-	1	260	c.220G>A	c.(220-222)Ggg>Agg	p.G74R		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	74	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATTCCCTGTGAAGGCA	0.582000													43	66					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13470428	13470428	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:13470428G>A	ENST00000360228.5	-	6	969	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L324F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	324					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACATTGTAGAGGAGATCAGTC	0.537000													10	9					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697604	111697604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:111697604C>T	ENST00000435970.1	-	15	2536	c.1720G>A	c.(1720-1722)Gta>Ata	p.V574I	REV3L_ENST00000368805.1_Missense_Mutation_p.V652I|REV3L_ENST00000368802.3_Missense_Mutation_p.V652I|REV3L_ENST00000358835.3_Missense_Mutation_p.V652I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	652					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGGAAGATACTGGGAGGATC	0.313000								DNA polymerases (catalytic subunits)					12	24					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs75687299	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1																						AAAGCAGCGGCGGCGTTTGCT	0.597000													5	20					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255155	30255155	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:30255155G>A	ENST00000417547.1	+	3	237	c.198G>A	c.(196-198)caG>caA	p.Q66Q	FSHB_ENST00000533718.1_Silent_p.Q66Q|FSHB_ENST00000254122.3_Silent_p.Q66Q	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	66					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CCAAAATCCAGAAAACATGTA	0.463000													20	58					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389900	232389900	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:232389900G>A	ENST00000305141.4	-	3	1268	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	379					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTCTGAGGCGATGGCAGCAG	0.682000													22	24					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138758704	138758704	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:138758704G>A	ENST00000242351.5	-	7	2086	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	ZC3HAV1_ENST00000464606.1_Silent_p.S712S|ZC3HAV1_ENST00000471652.1_Silent_p.S590S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	590					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGAAGGAGTGGAGAGGCGTC	0.418000													31	82					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9089213C>T	ENST00000397910.4	-	1	2805	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	868	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCGAAGTTTCCTCTGTTTCT	0.478000													19	37					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49231348	49231348	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:49231348G>A	ENST00000308025.3	-	7	791	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	238	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTCTTCCCGGATCTTCTGC	0.512000													42	76					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248652006	248652006	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248652006C>T	ENST00000366473.2	+	1	122	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TTGTGGTTTTCCTGAAGGCGT	0.478000													40	121					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42740244	42740244	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:42740244C>T	ENST00000441594.1	-	5	700	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	HHATL_ENST00000310417.5_Missense_Mutation_p.A147T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	147					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAGGCTGGCCAAGCCAAGG	0.582000													48	89					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765556	77765556	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:77765556G>A	ENST00000521891.2	+	10	6847	c.6399G>A	c.(6397-6399)cgG>cgA	p.R2133R	ZFHX4_ENST00000050961.6_Silent_p.R2088R|ZFHX4_ENST00000518282.1_Silent_p.R2107R|ZFHX4_ENST00000455469.2_Silent_p.R2088R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2088						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGCCCACGGACAAGAATTA	0.443000										HNSCC(33;0.089)			13	16					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409304	28409304	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:28409304G>A	ENST00000337532.5	-	11	982	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	MPP7_ENST00000375719.3_Missense_Mutation_p.L236F|MPP7_ENST00000375732.1_Missense_Mutation_p.L236F|MPP7_ENST00000540098.1_Missense_Mutation_p.L236F|MPP7_ENST00000445954.2_Missense_Mutation_p.L111F	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	236	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TAGTCAAAGAGGGCTTTGATA	0.343000													19	32					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979729	89979729	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:89979729C>T	ENST00000405460.2	+	28	6087	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1997					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCAGAACATCACACTATCAA	0.373000													14	7					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184918	175184918	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:175184918C>T	ENST00000454872.1	+	8	1607	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	493					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTATTGTTTTCTGTTCTTGGG	0.403000													28	30					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150298211	150298211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:150298211C>T	ENST00000324862.6	+	3	313	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.H50Y	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	50	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCTGTCAGATCATCTGAAACC	0.453000													99	139					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624180	118624180	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:118624180C>T	ENST00000336338.5	-	14	1913	c.1848G>A	c.(1846-1848)ggG>ggA	p.G616G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	616						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTTCAGTTTCCCTTTTTCAT	0.438000													44	52					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510978	4510978	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:4510978G>A	ENST00000301286.3	-	3	2951	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	984	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TAACCCCACTGAAGACAGTGT	0.617000													23	33					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722188	196722188	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:196722188G>A	ENST00000312428.6	-	44	8427	c.8327C>T	c.(8326-8328)cCa>cTa	p.P2776L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2776	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACAAAATCTGGATTTGGAAT	0.363000													19	37					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012576	107012576	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:107012576C>T	ENST00000369701.3	+	23	3376	c.3149C>T	c.(3148-3150)cCt>cTt	p.P1050L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1050						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCGTGTTTCCTGGTCTCCCC	0.512000													27	15					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639936	74639936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:74639936G>A	ENST00000253159.8	+	25	4660	c.4462G>A	c.(4462-4464)Ggc>Agc	p.G1488S	ZNF236_ENST00000320610.9_Missense_Mutation_p.G1490S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1488					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCCCCCTCCGGCGGTCCCCA	0.552000													25	39					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718149	73718149	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:73718149C>T	ENST00000264448.6	+	10	9171	c.9060C>T	c.(9058-9060)tcC>tcT	p.S3020S	ALMS1_ENST00000409009.1_Silent_p.S2978S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3020					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGTGGTCTCCCAGTCAGCCC	0.383000													43	53					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	55					0.184627	0.184627	1	1	0
CPNE5	57699	broad.mit.edu	37	6	36742796	36742796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:36742796G>A	ENST00000244751.2	-	10	1303	c.679C>T	c.(679-681)Cca>Tca	p.P227S		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	227	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCCAGACTGGATTTAGGGTG	0.512000													12	20					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64800005	64800005	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64800005C>T	ENST00000377244.3	+	3	368	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	80	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCTTTCCCCCGGGCCCA	0.627000													26	11					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942134	144942134	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144942134C>T	ENST00000525985.1	-	2	5359	c.5288G>A	c.(5287-5289)gGa>gAa	p.G1763E				P58107	EPIPL_HUMAN	epiplakin 1	1763						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGTTTTCTCCTTTCTTTAT	0.537000													44	61					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693387	187693387	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:187693387G>A	ENST00000295131.2	-	9	1265	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	409					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTCTCTGTTTGAAACAGACTG	0.348000													8	21					0	0	1	0	0
APLN	8862	broad.mit.edu	37	X	128782727	128782727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:128782727C>T	ENST00000307484.6	-	2	435	c.110G>A	c.(109-111)gGc>gAc	p.G37D	APLN_ENST00000427399.1_5'UTR|APLN_ENST00000429967.1_5'UTR	NM_017413.4	NP_059109.3	Q9ULZ1	APEL_HUMAN	apelin	37					immune response|lactation|signal transduction		hormone activity										GCGGACATTGCCGTCTTCCAG	0.652000													2	1					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606171	21606171	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:21606171C>T	ENST00000392288.2	+	4	819	c.710C>T	c.(709-711)tCc>tTc	p.S237F	ZNF493_ENST00000355504.4_Missense_Mutation_p.S109F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GGAGAGAAATCCTACAAATAT	0.373000													16	42					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122099	233122099	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:233122099G>A	ENST00000258229.8	-	33	6213	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S	PCNXL2_ENST00000344698.2_Silent_p.S645S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1993	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGAGTGCAGGGACGTGGCCG	0.687000													6	4					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604239	71604239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:71604239C>T	ENST00000355962.4	-	9	1107	c.974G>A	c.(973-975)gGa>gAa	p.G325E	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	325					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTTCAGAGCTCCCTGGACAAT	0.512000													53	9					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714955	196714955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:196714955G>A	ENST00000367429.4	+	21	3559	c.3319G>A	c.(3319-3321)Gga>Aga	p.G1107R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGATTCTACAGGAAAATGTGG	0.393000													41	75					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081372	3081372	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:3081372G>A	ENST00000602557.1	-	29	4921	c.4366C>T	c.(4366-4368)Ctg>Ttg	p.L1456L	CSMD1_ENST00000537824.1_Silent_p.L1455L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.L1456L|CSMD1_ENST00000520002.1_Silent_p.L1456L|CSMD1_ENST00000542608.1_Silent_p.L1455L|CSMD1_ENST00000602723.1_Silent_p.L1456L|CSMD1_ENST00000539096.1_Silent_p.L1455L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1456	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGCCCGTCAGATTCCCTCCA	0.502000													21	6					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137313635	137313635	+	Silent	SNP	C	C	T	rs72554630		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:137313635C>T	ENST00000540193.1	+	5	1526	c.603C>T	c.(601-603)gtC>gtT	p.V201V	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.V298V			P19793	RXRA_HUMAN	retinoid X receptor, alpha	298	Hinge.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACGACCAGGTCATCCTGCTGC	0.622000													24	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547547	179547547	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179547547C>T	ENST00000589042.1	-	135	33195	c.32971G>A	c.(32971-32973)Gaa>Aaa	p.E10991K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10674K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9747K|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10674	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCATATTCCTCATATTCT	0.343000													25	29					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11523033	11523033	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:11523033G>A	ENST00000262442.3	+	6	1353	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D429N|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	429	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGGAATGGGATTTCCAGTC	0.512000													55	91					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904401	23904401	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:23904401G>A	ENST00000382298.3	-	10	14202	c.13614C>T	c.(13612-13614)taC>taT	p.Y4538Y	SACS_ENST00000382292.3_Silent_p.Y4538Y|SACS_ENST00000402364.1_Silent_p.Y3788Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4538	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCAAATCAGGGTATCTTGTTT	0.393000													35	52					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39931246	39931246	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:39931246C>T	ENST00000281961.2	+	2	482	c.426C>T	c.(424-426)atC>atT	p.I142I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		GCACGGCCATCAAGTACCACT	0.443000													24	37					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211486923	211486923	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:211486923C>T	ENST00000367005.4	+	11	1442	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.P492L|RCOR3_ENST00000367006.4_Silent_p.S411S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	434	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGCCTCCTCCACTCCAGCAG	0.587000													53	71					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147387	95147387	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:95147387C>T	ENST00000354268.4	+	3	381	c.308C>T	c.(307-309)tCc>tTc	p.S103F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S103F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	103					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATGTCGTTTCCCCAAATTGC	0.308000													27	46					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768428	39768428	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:39768428G>A	ENST00000301653.4	-	1	577	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	171	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCAGGTCCTCGATGGTCTTGA	0.542000													53	108					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234342	21234342	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:21234342C>T	ENST00000233242.1	-	26	5525	c.5398G>A	c.(5398-5400)Gac>Aac	p.D1800N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1800					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTTCAGGTCACTGTTTAAA	0.408000													51	94					0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83561585	83561585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:83561585G>A	ENST00000304231.8	-	2	206	c.14C>T	c.(13-15)cCc>cTc	p.P5L	HOMER2_ENST00000426485.1_Missense_Mutation_p.P5L|HOMER2_ENST00000450735.2_Missense_Mutation_p.P5L|HOMER2_ENST00000399166.2_Missense_Mutation_p.P5L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	5	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GGTGAAGATGGGCTGTTCTCT	0.473000													25	61					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206477	159206477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:159206477G>A	ENST00000367075.3	-	5	499	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	EZR_ENST00000337147.7_Missense_Mutation_p.L111F|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L79F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	111	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCATCGCTAAGGATTCCTTCC	0.527000			T	ROS1	NSCLC								25	40					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78921039	78921039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:78921039G>A	ENST00000306801.3	+	27	3515	c.3153G>A	c.(3151-3153)tgG>tgA	p.W1051*	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Nonsense_Mutation_p.W893*	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1051					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.W1051*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTGGGACTGGGAGAAAGGGG	0.502000													10	40					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277928	41277928	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:41277928C>T	ENST00000357137.4	+	3	420	c.336C>T	c.(334-336)ccC>ccT	p.P112P	XPNPEP3_ENST00000414396.1_Silent_p.P112P|XPNPEP3_ENST00000544094.1_Silent_p.P89P|XPNPEP3_ENST00000541156.1_Silent_p.P112P	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	112					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGATATTCCCTATACTTTCC	0.463000													34	67					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216496	149216496	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:149216496G>A	ENST00000309241.5	+	8	2510	c.2478G>A	c.(2476-2478)ggG>ggA	p.G826G	PPARGC1B_ENST00000360453.4_Silent_p.G787G|PPARGC1B_ENST00000394320.3_Silent_p.G826G|PPARGC1B_ENST00000403750.1_Silent_p.G762G	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	826					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaCTCAGGGGTCAGCCCCA	0.622000													38	79					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006586	145006586	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:145006586G>A	ENST00000322810.4	-	16	2539	c.2370C>T	c.(2368-2370)gcC>gcT	p.A790A	PLEC_ENST00000354589.3_Silent_p.A653A|PLEC_ENST00000527096.1_Silent_p.A676A|PLEC_ENST00000357649.2_Silent_p.A657A|PLEC_ENST00000436759.2_Silent_p.A680A|PLEC_ENST00000356346.3_Silent_p.A639A|PLEC_ENST00000354958.2_Silent_p.A631A|PLEC_ENST00000398774.2_Silent_p.A621A|PLEC_ENST00000345136.3_Silent_p.A653A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	790	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTCTTGGCGGTCATGT	0.627000													37	66					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690654	6690654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:6690654C>T	ENST00000245907.6	-	27	3567	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1159					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCTGCTCCTCGCAAATATCT	0.542000													20	42					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452036	26452036	+	Silent	SNP	C	C	T	rs139835450		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:26452036C>T	ENST00000244519.2	+	11	1395	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	BTN3A3_ENST00000339789.4_Silent_p.V342V|BTN3A3_ENST00000361232.3_Silent_p.V335V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	384	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTTACTGTGTCCTTGGCTGTG	0.517000													33	31					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78680339	78680339	+	Missense_Mutation	SNP	C	C	T	rs77618957	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:78680339C>T	ENST00000436010.2	-	23	4478	c.3481G>A	c.(3481-3483)Gaa>Aaa	p.E1161K	ROBO1_ENST00000467549.1_Missense_Mutation_p.E1100K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1155K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1200K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1200					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGTACTCTTCGCTATTGCTG	0.453000													5	14					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:58134512G>A	ENST00000184956.6	-	12	1992	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000													48	168					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801959	125801959	+	Silent	SNP	G	G	A	rs142086366		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:125801959G>A	ENST00000346248.5	-	4	1533	c.891C>T	c.(889-891)atC>atT	p.I297I	CHST15_ENST00000435907.1_Silent_p.I297I|CHST15_ENST00000421115.1_Silent_p.I297I	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	297					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTAGGCGGACGATTCCTATGA	0.542000													21	15					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136139	156136139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:156136139C>T	ENST00000329476.3	+	2	1537	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	NPY2R_ENST00000506608.1_Missense_Mutation_p.H350Y	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	350					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGATGCCATTCACTCTGAGGT	0.507000													37	49					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307767	113307767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:113307767G>A	ENST00000389385.4	+	10	1216	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	RPH3A_ENST00000551052.1_Missense_Mutation_p.R236Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.R191Q|RPH3A_ENST00000543106.2_Missense_Mutation_p.R240Q|RPH3A_ENST00000447659.2_Missense_Mutation_p.R191Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.R240Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.R240Q|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	240	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCCGAGGCACGAATGAGCTCA	0.607000													33	26					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36304179	36304179	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:36304179G>A	ENST00000301175.3	-	1	22	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	2					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			taccctgggcgacatagtgag	0.468000													6	4					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039189	11039189	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:11039189G>A	ENST00000470054.1	-	0	1014									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGAGTGACAGATTCAATGAC	0.428000													8	186					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72287263	72287263	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72287263G>A	ENST00000579490.1	+	5	1021	c.886G>A	c.(886-888)Gga>Aga	p.G296R	DNAI2_ENST00000446837.2_Missense_Mutation_p.G239R|DNAI2_ENST00000311014.6_Missense_Mutation_p.G239R|DNAI2_ENST00000582036.1_Missense_Mutation_p.G239R|DNAI2_ENST00000307504.5_Missense_Mutation_p.G96R			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	239					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.G239*(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGCTACAATGGACAGATAGG	0.458000									Kartagener syndrome				108	251					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748491	67748491	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:67748491C>T	ENST00000433211.1	-	16	2398	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R	CTNNA3_ENST00000373735.1_Missense_Mutation_p.G81R|CTNNA3_ENST00000373744.4_Missense_Mutation_p.G742R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	742					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						ATCCTTGATCCTGATTCTGAT	0.393000													26	11					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297090	9297090	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9297090C>T	ENST00000344248.2	+	1	812	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	211					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTTCCCCTCCTTGGGATCA	0.483000													33	45					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199464	86199464	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:86199464G>A	ENST00000361228.3	-	2	692	c.324C>T	c.(322-324)ccC>ccT	p.P108P		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	108	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTGCATATTGGGCTGCTCAT	0.448000													41	73					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982493	7982493	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:7982493G>A	ENST00000328600.2	-	2	827	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	222	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCAGAAAAGGAGCTGCTCCA	0.542000													19	51					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133574	22133574	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:22133574C>T	ENST00000408935.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGACCATTTCCTTTGACAAC	0.438000													190	39					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156766	68156766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:68156766C>T	ENST00000349223.5	+	2	1204	c.980C>T	c.(979-981)cCa>cTa	p.P327L	NFATC3_ENST00000575270.1_Missense_Mutation_p.P327L|NFATC3_ENST00000346183.3_Missense_Mutation_p.P327L|NFATC3_ENST00000329524.4_Missense_Mutation_p.P327L|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	327					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAGTTTTTCCATTTCAGTAC	0.483000													83	22					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47548652	47548652	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:47548652G>A	ENST00000602212.1	+	12	1736	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.D506N|NPAS1_ENST00000602189.1_Missense_Mutation_p.D331N			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	506					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCTGAAGCAGGATCCGGTGCG	0.731000													15	23					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604240	71604240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:71604240C>T	ENST00000355962.4	-	9	1106	c.973G>A	c.(973-975)Gga>Aga	p.G325R	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	325					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTCAGAGCTCCCTGGACAATG	0.512000													54	9					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572422	42572422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:42572422G>A	ENST00000433647.1	+	8	1289	c.665G>A	c.(664-666)tGg>tAg	p.W222*	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Nonsense_Mutation_p.W263*|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Nonsense_Mutation_p.W215*	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	263					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTCATCGGCTGGGGTATGGTA	0.607000													39	56					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944486	144944486	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144944486G>A	ENST00000525985.1	-	2	3007	c.2936C>T	c.(2935-2937)cCa>cTa	p.P979L				P58107	EPIPL_HUMAN	epiplakin 1	979						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCTCTCTGGGCTGTGAGG	0.682000													10	10					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802876	159802876	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:159802876G>A	ENST00000289707.5	+	3	727	c.578G>A	c.(577-579)gGa>gAa	p.G193E	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.G84E	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	193	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGGGACCAGGAGACAGAGAT	0.547000													28	66					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855197	23855197	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:23855197C>T	ENST00000405093.3	-	34	5173	c.5103G>A	c.(5101-5103)cgG>cgA	p.R1701R	MYH6_ENST00000356287.3_Silent_p.R1701R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1701					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCCAGCTTCCGGGACCGCT	0.632000													30	40					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:139094905C>T	ENST00000332797.6	+	1	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000													95	156					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652476	113652476	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:113652476C>T	ENST00000358160.4	+	12	1820	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.S276F|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.S172F|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.S238F|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	443						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATCATCCGATCTTCAAAACAG	0.393000													26	51					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702712	27702712	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:27702712G>A	ENST00000438700.3	-	1	585	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	156					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTAGGTACAGGAAGCCGGTGC	0.662000													75	105					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390303	158390303	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158390303C>T	ENST00000314902.2	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GATCATAACCCATGACTGCCA	0.517000													37	96					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769832	160769832	+	Silent	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:160769832T>C	ENST00000263285.5	+	2	444	c.414T>C	c.(412-414)ttT>ttC	p.F138F	LY9_ENST00000368041.2_Silent_p.F98F|LY9_ENST00000368039.2_Silent_p.F138F|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.F138F|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	138	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAAGGAATTTTGAAGTCACCA	0.418000													47	70					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170025118	170025118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:170025118G>A	ENST00000263816.3	-	61	11851	c.11566C>T	c.(11566-11568)Ccg>Tcg	p.P3856S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3856	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATATGGCGGGATACAAACA	0.458000													18	23					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				53	45					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729244	122729244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:122729244G>A	ENST00000267199.4	-	7	953	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P242S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	281					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCTTCCGTGGGGAGGTCCTTA	0.493000													29	80					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141359	143141359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:143141359C>T	ENST00000332690.1	+	1	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	272					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGGTATTTTTCCACCTCTGGA	0.488000													43	181					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77317555	77317555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:77317555G>A	ENST00000388914.3	-	3	307	c.155C>T	c.(154-156)cCt>cTt	p.P52L	CCDC158_ENST00000434846.2_Missense_Mutation_p.P52L|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	52										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGAAAAAAGGAACCTGTGT	0.343000													16	35					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158325692G>A	ENST00000444681.2	+	3	697	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CD1E_ENST00000452291.2_Missense_Mutation_p.G45E|CD1E_ENST00000368164.3_Missense_Mutation_p.G45E|CD1E_ENST00000368160.3_Missense_Mutation_p.G234E|CD1E_ENST00000368161.3_Missense_Mutation_p.G234E|CD1E_ENST00000368165.3_Missense_Mutation_p.G144E|CD1E_ENST00000368167.3_Missense_Mutation_p.G234E|CD1E_ENST00000368156.1_Missense_Mutation_p.G144E|CD1E_ENST00000434258.1_Missense_Mutation_p.G232E|CD1E_ENST00000368157.1_Missense_Mutation_p.G45E|CD1E_ENST00000368166.3_Missense_Mutation_p.G45E|CD1E_ENST00000368163.3_Missense_Mutation_p.G234E|CD1E_ENST00000368155.3_Missense_Mutation_p.G144E|CD1E_ENST00000368154.1_Missense_Mutation_p.G45E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	234					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000													30	72					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165842	3165842	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:3165842G>A	ENST00000602557.1	-	25	4373	c.3818C>T	c.(3817-3819)tCg>tTg	p.S1273L	CSMD1_ENST00000537824.1_Missense_Mutation_p.S1272L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1273L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1273L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1272L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1273L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1272L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1273	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTATGCACGAAGGTAGTGG	0.507000													7	3					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7015735	7015735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:7015735C>T	ENST00000389658.3	-	22	3205	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1038	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.E1038K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCCCACCTCCGCATCGTAG	0.527000													39	77					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745405	27745405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:27745405G>A	ENST00000264717.2	+	18	1714	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	GCKR_ENST00000424318.2_Missense_Mutation_p.D361N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	551					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACTGTCAGATGATATTCGGGC	0.517000													47	75					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724660	158724660	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158724660C>T	ENST00000368144.2	+	1	151	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCTCTTGTTTCCTTTTCTGTG	0.438000													37	84					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475177	31475177	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:31475177G>A	ENST00000252229.6	+	5	972	c.892_splice	c.e5-1	p.G298_splice	MICB_ENST00000399150.3_Splice_Site_p.G255_splice|MICB_ENST00000538442.1_Splice_Site_p.G266_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	298	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTTTTTTCAGGGAAGGCGCTG	0.507000													22	39					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060319	68060319	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:68060319C>T	ENST00000204961.4	+	5	1643	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	288					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CTGGCCAGTCCCAAGGGGGGC	0.602000													9	3					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784105	24784105	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:24784105G>A	ENST00000376451.2	+	3	1123	c.863G>A	c.(862-864)aGg>aAg	p.R288K	KIAA1217_ENST00000458595.1_Missense_Mutation_p.R570K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R288K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R605K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R491K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R570K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R525K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R288K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R288K			Q5T5P2	SKT_HUMAN	KIAA1217	605					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAGCCAACAGGAACCACACA	0.423000													28	39					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414282	48414282	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:48414282C>T	ENST00000249598.1	-	2	745	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	196					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTGAATGTCCTGGGACACC	0.537000													23	14					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304034	10304034	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10304034C>T	ENST00000403437.2	-	27	3502	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1136					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCGCTGCTTCTCCGCTTTGG	0.562000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				47	84					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459301	7459301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:7459301C>T	ENST00000399422.4	+	2	422	c.374C>T	c.(373-375)cCt>cTt	p.P125L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	125					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCCAGAATCCCTGAGTGGTGG	0.507000													11	7					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799481	196799481	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:196799481C>T	ENST00000312428.6	-	21	3405	c.3305G>A	c.(3304-3306)gGa>gAa	p.G1102E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1102	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGCGATTCCTTCAAAACA	0.358000													34	29					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595452	55595452	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:55595452G>A	ENST00000378397.1	+	1	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTCTCCCATGGAACAATCCTT	0.493000										HNSCC(27;0.073)			42	27					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85982254	85982254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:85982254G>A	ENST00000372113.4	-	3	1080	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	LRIT2_ENST00000538192.1_Missense_Mutation_p.P369S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	359						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCTCCGAGGGGATGGAAAGA	0.552000													12	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597678	179597678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179597678C>T	ENST00000589042.1	-	55	16449	c.16225G>A	c.(16225-16227)Gaa>Aaa	p.E5409K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5092K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4165K|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5092							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)			GCTGTGCCTTCCACAAATGCT	0.483000													13	19					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911717	59911717	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:59911717A>T	ENST00000396065.1	+	3	1728	c.1280A>T	c.(1279-1281)tAc>tTc	p.Y427F	GCNT3_ENST00000560585.1_Missense_Mutation_p.Y427F	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	427					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGAAGAATACCTACGTTAT	0.458000													51	86					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464956	104464956	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:104464956G>A	ENST00000372578.3	-	2	237	c.126C>T	c.(124-126)tcC>tcT	p.S42S	TEX13A_ENST00000413579.1_Silent_p.S42S|TEX13A_ENST00000372575.1_Silent_p.S42S|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	42						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTTCTCCCAGGATAAGGATA	0.572000													24	9					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243954	56243954	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:56243954G>A	ENST00000332836.2	-	2	1270	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	415	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCCTCCGGAGATCCCCATGG	0.488000													68	67					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:219000488C>T	ENST00000318507.2	+	3	1391	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000													50	66					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781440	102781440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:102781440G>A	ENST00000410023.1	+	4	586	c.268G>A	c.(268-270)Gat>Aat	p.D90N	IL1R1_ENST00000409329.1_Missense_Mutation_p.D90N|IL1R1_ENST00000233946.3_Missense_Mutation_p.D90N|IL1R1_ENST00000424272.1_Missense_Mutation_p.D90N|IL1R1_ENST00000409929.1_Missense_Mutation_p.D90N|IL1R1_ENST00000409288.1_Missense_Mutation_p.D90N|IL1R1_ENST00000409589.1_Missense_Mutation_p.D90N			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	90	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAAGGTGGAGGATTCAGGACA	0.383000													26	42					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076105	101076105	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:101076105C>T	ENST00000360863.6	-	8	1085	c.891G>A	c.(889-891)aaG>aaA	p.K297K	RGS22_ENST00000523437.1_Silent_p.K285K|RGS22_ENST00000523287.1_Silent_p.K116K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	297					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCCTGTTTCTTTTCAAGGT	0.358000													44	99					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794743	30794743	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:30794743G>A	ENST00000262525.4	-	3	1113	c.906C>T	c.(904-906)aaC>aaT	p.N302N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N302K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGAGGTTGTGGTTCTGGCCGA	0.632000													55	77					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291724	141291724	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:141291724G>A	ENST00000247452.3	-	3	397	c.50C>T	c.(49-51)cCg>cTg	p.P17L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	17						cytoplasm|nucleus		p.P17Q(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGAGGTCGGGGAGTCGTT	0.512000										HNSCC(46;0.14)			91	21					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034076	79034076	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:79034076G>A	ENST00000446378.2	+	2	9519	c.9488G>A	c.(9487-9489)gGa>gAa	p.G3163E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3163						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAGAGGAAGGAGTTCTATCA	0.428000													20	32					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909235	123909235	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:123909235C>T	ENST00000330487.5	-	1	482	c.474G>A	c.(472-474)caG>caA	p.Q158Q		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAATATGGTCTGGACAGCAG	0.572000													102	74					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	53					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294702	77294702	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:77294702C>T	ENST00000393774.3	+	2	281	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.P36S|C14orf166B_ENST00000216453.5_Missense_Mutation_p.P10S	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	53										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CGAATCCCCGCCGACTGTTGA	0.512000													9	66					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462918	21462918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:21462918C>T	ENST00000281523.2	-	8	1494	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	326						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTGAAGGTTCTTTTGAAAAT	0.418000													5	15					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000140	46000140	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr21:46000140C>T	ENST00000400372.1	-	1	341	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	106	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAAGAGGAATCCTTAGAgcag	0.647000													67	45					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15749516	15749516	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:15749516C>T	ENST00000399451.2	-	14	1739	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.V491M	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	458						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGATCCCACAAGAGCAAAC	0.468000													5	10					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	G	A	rs146406553		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:96651051G>A	ENST00000302103.5	+	3	346	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000													39	63					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299235	54299235	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54299235G>A	ENST00000324134.6	-	9	3144	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	NLRP12_ENST00000391773.1_Silent_p.F993F|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391775.3_Silent_p.F935F|NLRP12_ENST00000351894.4_Silent_p.F880F|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	992					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCAGGGTGAAGTAAAGAT	0.527000													18	31					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000													27	24					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378017	51378017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:51378017G>A	ENST00000325321.3	+	2	312	c.87G>A	c.(85-87)tgG>tgA	p.W29*	AC037199.1_ENST00000594218.1_Silent_p.S8S|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Nonsense_Mutation_p.W29*			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	29	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGGGAGGCTGGGAGTGTGAGA	0.622000			T	ETV4	prostate								17	39					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149262997	149262997	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:149262997G>A	ENST00000255266.5	-	17	2249	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	710					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCACATAACGATTTCCTTCC	0.488000													9	13					0	0	1	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214731	3214731	+	RNA	SNP	T	T	C			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:3214731T>C	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GGTGGGAATTTGCTGCACTGT	0.527000													7	11					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764234	92764234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:92764234C>T	ENST00000318238.4	-	5	2267	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D351N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D351N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	351										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCAGGATATCCCTAGAGCTA	0.353000													91	53					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13337534	13337534	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:13337534G>A	ENST00000396920.3	-	3	554	c.150C>T	c.(148-150)atC>atT	p.I50I	PHYH_ENST00000263038.4_Silent_p.I69I|PHYH_ENST00000396913.2_5'UTR			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	69					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CAAGATTTTTGATTACTAGAA	0.318000													20	33					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716758	151716758	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:151716758C>T	ENST00000392800.2	+	9	1458	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	GALNTL5_ENST00000431418.2_Silent_p.L402L	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	402						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAAGCCTGGTCTGAAATATGT	0.383000													25	59					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312488	45312488	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:45312488G>A	ENST00000313237.5	-	4	386	c.236C>T	c.(235-237)cCa>cTa	p.P79L	PHF21B_ENST00000404079.2_Missense_Mutation_p.P67L|PHF21B_ENST00000447824.3_Missense_Mutation_p.P67L|PHF21B_ENST00000396103.3_Missense_Mutation_p.P79L|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	79							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GAGGCTGTCTGGAATCAGAGT	0.652000													36	52					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72131162	72131162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:72131162C>T	ENST00000305425.4	-	6	1992	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	DACH1_ENST00000359684.2_Missense_Mutation_p.E576K|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	574					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTACCTTTTTCAATATGCATC	0.378000													31	52					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56400684	56400684	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:56400684C>T	ENST00000348428.3	+	11	1536	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	MALT1_ENST00000345724.3_Silent_p.V415V|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	426	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCTTCATGGTCCCCGTTGATG	0.338000			T	BIRC3	MALT								22	35					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326606	158326606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:158326606C>T	ENST00000444681.2	+	5	1083	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q174*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q351*|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q273*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.Q363*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q261*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.Q107*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q162*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q296*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.Q206*|CD1E_ENST00000368154.1_Nonsense_Mutation_p.Q119*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	363	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCAAGACATCAGTTCTGCTT	0.438000													41	69					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190571	49190571	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:49190571G>A	ENST00000406846.2	-	10	1508	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	FSHR_ENST00000541117.1_Silent_p.I199I|FSHR_ENST00000346173.3_Silent_p.I401I|FSHR_ENST00000304421.4_Silent_p.I437I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	463					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTCCAAGGTGATAGCTGTCA	0.527000									Gonadal Dysgenesis, 46 XX				23	23					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415045	88415045	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:88415045C>T	ENST00000418378.1	-	5	1478	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.E303K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E178K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	303					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)		CTGATAGCTTCTAGGCCAGTT	0.433000													96	159					0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251936	38251936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:38251936G>A	ENST00000246672.3	-	5	1639	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	337					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGGGCAGGTGGGCAGCCCTGA	0.612000													38	59					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717538	142717538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:142717538C>T	ENST00000381779.4	-	2	1612	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E463K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E463K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	463						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGATTTCCTTAATCAAA	0.378000													42	5					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44599949	44599949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:44599949G>A	ENST00000322927.2	-	2	201	c.101C>T	c.(100-102)gCc>gTc	p.A34V	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCGGACACGGCTTCTGAGGT	0.731000													4	25					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517804	70517804	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:70517804G>A	ENST00000381269.2	-	6	2805	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	SLC8A3_ENST00000528359.1_Silent_p.I682I|SLC8A3_ENST00000357887.3_Silent_p.I682I|SLC8A3_ENST00000533541.1_Silent_p.I41I|SLC8A3_ENST00000394330.2_Silent_p.I41I|SLC8A3_ENST00000356921.2_Silent_p.I678I|SLC8A3_ENST00000534137.1_Silent_p.I681I|SLC8A3_ENST00000216568.7_Silent_p.I55I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	684					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTCTTCTTGATCAGTTTGT	0.493000													24	35					0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193781	193781	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:193781C>T	ENST00000342878.2	+	2	145	c.125C>T	c.(124-126)cCa>cTa	p.P42L	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	42						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGGGGACCCCAGAGGAGCTC	0.537000													14	85					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455503	19455503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:19455503G>A	ENST00000396229.2	+	4	1638	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	TMC5_ENST00000541464.1_Missense_Mutation_p.E297K|TMC5_ENST00000381414.4_Missense_Mutation_p.E297K|TMC5_ENST00000542583.2_Missense_Mutation_p.E297K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	297						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAAGGCATTGAAATGGCATC	0.502000													23	46					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941865	22941865	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:22941865C>T	ENST00000397104.3	-	5	572	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ZNF99_ENST00000596209.1_Silent_p.K282K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATGGTTTCTTCCCAGTAT	0.353000													10	26					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044050	74044050	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:74044050G>A	ENST00000409561.1	+	3	2821	c.2700G>A	c.(2698-2700)ggG>ggA	p.G900G		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	900										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCTTTGGGGAAAGTGCAGT	0.443000													5	20					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315788	45315788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:45315788G>A	ENST00000391955.1	+	4	531	c.487G>A	c.(487-489)Gag>Aag	p.E163K	BCAM_ENST00000270233.6_Missense_Mutation_p.E163K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	163	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTCTGTGATGGAGGACTCTGC	0.647000													15	42					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96130079	96130079	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:96130079C>T	ENST00000467865.1	+	0	487				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TTGGATTGTGCTGTTTGGGAG	0.373000			T	TRA@	T-ALL								6	6					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131675	142131675	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:142131675G>A	ENST00000390375.2	-	0	120																											CAGGTGTGTGGGACTTTGGGT	0.557000													21	100					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47630095	47630095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:47630095C>T	ENST00000546455.1	+	4	1980	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	PCED1B_ENST00000432328.1_Nonsense_Mutation_p.R417*					PC-esterase domain containing 1B																		ACAGCGGCCTCGACCTTCAAA	0.577000													13	23					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206311	110206311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:110206311C>T	ENST00000538780.1	+	3	1293	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.P193S	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	193	Pro-rich.																GCCCCTGCCACCTTCCAACCT	0.736000													36	55					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009613	197009613	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:197009613G>A	ENST00000346964.2	-	4	444	c.255C>T	c.(253-255)tcC>tcT	p.S85S	DLG1_ENST00000314062.3_Silent_p.S85S|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000422288.1_Silent_p.S85S|DLG1_ENST00000419354.1_Silent_p.S85S|DLG1_ENST00000357674.4_Silent_p.S85S|DLG1_ENST00000450955.1_Silent_p.S85S|DLG1_ENST00000392382.2_Silent_p.S85S|DLG1_ENST00000448528.2_Silent_p.S85S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	85					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTGGAAGGCTGGAAATCTCCC	0.408000													56	72					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437219	132437219	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:132437219C>T	ENST00000370828.3	-	8	1967	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	GPC4_ENST00000535467.1_Silent_p.G411G	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	481					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCACGTCGTTCCCATTGTATG	0.418000													53	19					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782254	32782254	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:32782254C>T	ENST00000452392.2	-	14	2480	c.2307G>A	c.(2305-2307)caG>caA	p.Q769Q	HLA-DOB_ENST00000438763.2_Silent_p.Q162Q			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CTCTCTCCTCCTGCCCATTCA	0.527000													60	88					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772918	86772918	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:86772918G>A	ENST00000373119.4	+	1	167	c.22G>A	c.(22-24)Gag>Aag	p.E8K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E8K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	8						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGGCAAGAAAGAGTTTGATGT	0.453000													34	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:179439256C>T	ENST00000589042.1	-	326	71827	c.71603G>A	c.(71602-71604)cGa>cAa	p.R23868Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14803Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14995Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22227Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21300Q|TTN_ENST00000359218.5_Missense_Mutation_p.R14928Q|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22227	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(1)		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)			AATACCATTTCGTTCTTTTCT	0.418000													81	102					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874607	35874607	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:35874607C>T	ENST00000303115.3	+	6	892	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	255					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.A254_L255>EKV(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCTGTCGCTCTGTTGGTCAT	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						32	78					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407552	139407552	+	Silent	SNP	C	C	T	rs143360959	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:139407552C>T	ENST00000277541.6	-	15	2463	c.2388G>A	c.(2386-2388)gcG>gcA	p.A796A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	796	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGGTTGGACGCACACTCGT	0.622000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	36					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679478	6679478	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:6679478C>T	ENST00000245907.6	-	37	4578	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1496					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCTCCTTTTCCGGATGGTAG	0.577000													60	72					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782776	54782776	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54782776G>A	ENST00000391748.1	-	6	973	c.846C>T	c.(844-846)acC>acT	p.T282T	LILRB2_ENST00000314446.5_Silent_p.T282T|LILRB2_ENST00000434421.1_Silent_p.T166T|LILRB2_ENST00000391746.1_Silent_p.T282T|LILRB2_ENST00000391749.4_Silent_p.T282T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	282	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCCCAGGGTGAAGTTGG	0.647000													25	57					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855198	23855198	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:23855198C>T	ENST00000405093.3	-	34	5172	c.5102G>A	c.(5101-5103)cGg>cAg	p.R1701Q	MYH6_ENST00000356287.3_Missense_Mutation_p.R1701Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1701					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCAGCTTCCGGGACCGCTC	0.637000													31	40					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101053472	101053472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:101053472G>A	ENST00000369162.2	-	33	5493	c.5149C>T	c.(5149-5151)Ctt>Ttt	p.L1717F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1717	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTTCATAAAGAAATTTTTTA	0.338000													12	13					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143095664	143095664	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:143095664G>A	ENST00000367603.2	-	5	954	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S71F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S71F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCACTAGGGGAGGCCAGTTT	0.512000													66	121					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251164	19251164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:19251164G>A	ENST00000527884.1	-	10	1962	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	E2F8_ENST00000250024.4_Missense_Mutation_p.T577I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	577					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGGCCTGGTAGAGGCACT	0.567000													93	72					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307336	162307336	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:162307336C>T	ENST00000306100.5	-	16	2543	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S	FSTL5_ENST00000379164.4_Missense_Mutation_p.G702S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G693S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G702S|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	703						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGGTAGTGGCCATCTGGAGAG	0.458000													34	47					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674132	140674132	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:140674132C>T	ENST00000460843.1	+	14	2265	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.A715A|EHMT1_ENST00000462484.1_Silent_p.A746A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	746					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTTCTCCGCCAGGCAAGGGG	0.592000													23	31					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128447549	128447549	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:128447549C>T	ENST00000297788.4	+	10	1922	c.1555C>T	c.(1555-1557)Ctc>Ttc	p.L519F	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.L466F	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	519						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGAAAGAGCTCAAGGCCTC	0.572000													4	5					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683417	48683417	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:48683417G>A	ENST00000416767.4	+	23	4483	c.4455G>A	c.(4453-4455)gtG>gtA	p.V1485V	CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	955					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGTGGTGAAGGAGGCTG	0.612000													41	116					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171289012	171289012	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:171289012C>T	ENST00000367749.3	+	3	378	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	16					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGGCCTCTCCTCCATCAAAT	0.458000													90	80					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700320	33700320	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:33700320G>A	ENST00000354992.2	-	13	2196	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L	LARGE_ENST00000337431.2_Missense_Mutation_p.P490L|LARGE_ENST00000452586.2_Missense_Mutation_p.P341L|LARGE_ENST00000437602.2_Missense_Mutation_p.P542L|LARGE_ENST00000397394.2_Missense_Mutation_p.P542L|LARGE_ENST00000402320.1_Missense_Mutation_p.P490L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	542					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGGTTCACGGGGTAGAACTG	0.572000													60	77					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20793095	20793095	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:20793095G>A	ENST00000289416.5	+	7	1480	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	ACSM3_ENST00000450120.2_Silent_p.Q327Q|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000440284.2_Silent_p.Q335Q	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	335					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGCTTGTACAGAATGATATAA	0.393000													17	31					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125994	6125994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:6125994G>A	ENST00000261405.5	-	29	5350	c.5096C>T	c.(5095-5097)tCc>tTc	p.S1699F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1699	VWFA 3; main binding site for collagens type I and III.				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)	GAAACTGGAGGAGCCATCCAG	0.527000													23	114					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313430	18313430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:18313430G>A	ENST00000222256.4	-	2	299	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	41					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCAGCATAGCGGAAGAGGAAG	0.542000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	118					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404684	10404684	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:10404684T>A	ENST00000226207.5	-	27	3575	c.3481A>T	c.(3481-3483)Acc>Tcc	p.T1161S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1161						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGGCTGAGGTGGCCCCACCG	0.637000													55	95					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25058814	25058814	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:25058814C>T	ENST00000381989.3	-	12	1530	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	475	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAATAAATCCCACTTCCAA	0.433000													19	171					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:98109721C>T	ENST00000383695.1	+	1	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000													80	135					0	0	1	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060923	90060923	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:90060923C>T	ENST00000436451.2	+	0	337																											GGACAGATTTCACCCTCACCA	0.483000													57	74					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574780	210574780	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:210574780C>T	ENST00000360351.4	+	12	5381	c.4875C>T	c.(4873-4875)acC>acT	p.T1625T	MAP2_ENST00000447185.1_Silent_p.T1621T|MAP2_ENST00000392194.1_Silent_p.T269T|MAP2_ENST00000361559.4_Silent_p.T269T|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.T326T	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1625					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCCCAGGACCCCTCACACAC	0.577000													26	53					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918654	196918654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:196918654C>T	ENST00000367415.4	+	2	242	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFHR2_ENST00000367421.3_Missense_Mutation_p.S43F|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	43	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGCCATTTTCCCAAGTTCCT	0.348000													27	20					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935195	94935195	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:94935195G>A	ENST00000396200.3	+	3	1259	c.983G>A	c.(982-984)gGc>gAc	p.G328D	PDP1_ENST00000297598.4_Missense_Mutation_p.G303D|PDP1_ENST00000520728.1_Missense_Mutation_p.G303D|PDP1_ENST00000517764.1_Missense_Mutation_p.G303D	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	303					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GAAGAGGACGGCTCATGGTCA	0.512000													34	46					0	0	1	0	0
MIR521-1	574494	broad.mit.edu	37	19	54251952	54251952	+	RNA	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:54251952C>T	ENST00000384902.1	+	0	63					NR_030216.1																						GAACGCACTTCCCTTTAGAGT	0.443000													32	64					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674131	140674131	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:140674131C>T	ENST00000460843.1	+	14	2264	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A715V|EHMT1_ENST00000462484.1_Missense_Mutation_p.A746V	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	746					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TACTTCTCCGCCAGGCAAGGG	0.597000													23	31					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608061	29608061	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:29608061C>T	ENST00000431530.3	+	2	2333	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	749	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGTTCTCCTCCCTATGCTCA	0.433000													12	19					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055815	6055815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:6055815G>A	ENST00000409021.3	-	13	2217	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	JAKMIP1_ENST00000410077.2_Nonsense_Mutation_p.Q425*|JAKMIP1_ENST00000409371.3_Nonsense_Mutation_p.Q405*|JAKMIP1_ENST00000282924.5_Nonsense_Mutation_p.Q590*|JAKMIP1_ENST00000409831.1_Nonsense_Mutation_p.Q590*	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	590	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTCGTTCTGATCCTTGGCG	0.433000													46	100					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070292	35070292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:35070292G>A	ENST00000382002.5	-	7	1045	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	PRLR_ENST00000542609.1_Missense_Mutation_p.R207C|PRLR_ENST00000231423.3_Missense_Mutation_p.R207C|PRLR_ENST00000397391.3_Missense_Mutation_p.R136C|PRLR_ENST00000348262.3_Missense_Mutation_p.R207C|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.R207C|PRLR_ENST00000342362.5_Missense_Mutation_p.R106C|PRLR_ENST00000511486.1_Missense_Mutation_p.R106C|PRLR_ENST00000513753.1_Missense_Mutation_p.R207C	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	207	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGTTTGCAGCGAACCTGGACA	0.458000													34	31					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405281	68405281	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:68405281C>T	ENST00000219334.5	-	3	1407	c.804G>A	c.(802-804)agG>agA	p.R268R	SMPD3_ENST00000563226.1_Silent_p.R268R|SMPD3_ENST00000568373.1_Silent_p.R268R	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	268					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGCTCCGTTCCTGGCCTGGC	0.716000													29	5					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530037	97530037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:97530037G>A	ENST00000305476.5	-	10	1177	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	349	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTTCCTCATGGTACTCCTTA	0.602000													55	85					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011032	30011032	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:30011032G>A	ENST00000346128.6	-	21	3788	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	TJP1_ENST00000545208.2_Missense_Mutation_p.P1025L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1029L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1105L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1105					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATTATCAAAAGGTGGCCGAGA	0.493000													61	78					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307335	162307335	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:162307335C>T	ENST00000306100.5	-	16	2544	c.2108G>A	c.(2107-2109)gGc>gAc	p.G703D	FSTL5_ENST00000379164.4_Missense_Mutation_p.G702D|FSTL5_ENST00000427802.2_Missense_Mutation_p.G693D|FSTL5_ENST00000536695.1_Missense_Mutation_p.G702D|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	703						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGTAGTGGCCATCTGGAGA	0.453000													34	45					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318498	30318498	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:30318498C>T	ENST00000375377.1	-	3	680	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	193										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCTAATTTCCTTGGCTGGT	0.473000													96	112					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729245	122729245	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:122729245G>A	ENST00000267199.4	-	7	952	c.840C>T	c.(838-840)ctC>ctT	p.L280L	RP11-512M8.5_ENST00000535844.1_Silent_p.L241L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	280					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTTCCGTGGGGAGGTCCTTAC	0.498000													29	82					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422666	21422666	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:21422666C>T	ENST00000307378.6	-	16	2549	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G478E|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G610E|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G478E	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	610					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAAGCTTGATCCTCTTAGTGC	0.348000													22	26					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468500	35468500	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:35468500C>T	ENST00000353139.5	-	52	7012	c.6531G>A	c.(6529-6531)gtG>gtA	p.V2177V	ACACA_ENST00000361253.5_Silent_p.V266V|ACACA_ENST00000394406.2_Silent_p.V2140V|ACACA_ENST00000360679.3_Silent_p.V2082V|ACACA_ENST00000335166.5_Silent_p.V2062V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2140	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGACTGGGTCCACCCGACGCA	0.463000													38	60					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72090797	72090797	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:72090797C>A	ENST00000555818.1	+	4	2010	c.1662C>A	c.(1660-1662)gaC>gaA	p.D554E	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D554E|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D554E|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D29E	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	554					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCTGGAGGACGCCATTCCGT	0.572000													74	150					3.48418e-26	3.51361e-26	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766236	57766236	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:57766236C>T	ENST00000371030.2	+	1	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	54	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACTGTGTTCCTGAAGGCCC	0.726000													19	21					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622726	29622726	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:29622726G>T	ENST00000247271.4	-	2	885	c.624C>A	c.(622-624)gaC>gaA	p.D208E	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	208					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		CAAAAGATTGGTCTGGAATGA	0.353000													70	125					5.41795e-27	5.47296e-27	1	1	0
MAZ	4150	broad.mit.edu	37	16	29818754	29818754	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:29818754G>A	ENST00000219782.6	+	2	754	c.648G>A	c.(646-648)aaG>aaA	p.K216K	MAZ_ENST00000322945.6_Silent_p.K216K|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Silent_p.K193K|MAZ_ENST00000562337.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	216					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGGAGCCAAGGCCGGCCGGG	0.662000													23	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088132	9088132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9088132G>A	ENST00000397910.4	-	1	3886	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1228	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTCCAATGATGTGGCTGG	0.507000													127	179					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530734	50530734	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:50530734C>T	ENST00000374144.3	+	3	432	c.144C>T	c.(142-144)ttC>ttT	p.F48F	C10orf71_ENST00000323868.4_Silent_p.F48F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	48										endometrium(1)	1						ACACATCCTTCCATGACTCCT	0.557000													16	8					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874594	39874594	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:39874594C>T	ENST00000260356.5	+	3	433	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	90	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGGTTTCCTCCTTCTGGCATC	0.602000													25	35					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436247	72436247	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72436247C>T	ENST00000392627.1	+	2	1593	c.467C>T	c.(466-468)cCc>cTc	p.P156L	GPRC5C_ENST00000392629.2_Missense_Mutation_p.P123L|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	111						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGGTGAAGCCCGACTTCTCC	0.592000													115	66					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14682741	14682741	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:14682741G>A	ENST00000215565.2	-	1	133	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	24					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	CTGGCGGGAAGGTTGGCATCT	0.711000													11	22					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138507	205138507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:205138507G>A	ENST00000367162.3	-	3	1138	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	DSTYK_ENST00000367161.3_Missense_Mutation_p.L370F|DSTYK_ENST00000367160.4_Missense_Mutation_p.L370F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	370						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAGATGTCAAGGCAGTGGCAG	0.488000													24	66					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772257	24772257	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:24772257C>T	ENST00000221166.5	+	1	1733	c.951C>T	c.(949-951)atC>atT	p.I317I	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.I317I|NEFM_ENST00000518131.1_Silent_p.I317I			P07197	NFM_HUMAN	neurofilament, medium polypeptide	317	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGAAGAGATCGCCGAGTACC	0.637000													13	21					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896993	48896993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:48896993G>A	ENST00000394754.1	+	9	3337	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.E371K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E1075K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E1028K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E1075K|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E337K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E1075K	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1028					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGAATGAATTTCTAGG	0.383000													25	52					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262392	43262392	+	Silent	SNP	G	G	A	rs140758943	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:43262392G>A	ENST00000404209.4	-	3	567	c.471C>T	c.(469-471)aaC>aaT	p.N157N	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Silent_p.N35N|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Silent_p.N157N	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	157	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTCCCTGGGGTTTAATTTGC	0.537000													126	171					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999117	92999117	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:92999117G>A	ENST00000523629.1	-	8	1529	c.1075C>T	c.(1075-1077)Cat>Tat	p.H359Y	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H359Y|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H322Y|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H322Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H332Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H370Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H332Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H322Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	359	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTCTTACATGGTCAAGATGT	0.378000													63	80					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508458	64508458	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:64508458C>T	ENST00000377494.1	-	4	1255	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RASGRP2_ENST00000377489.1_Silent_p.G111G|RASGRP2_ENST00000394430.1_Silent_p.G111G|RASGRP2_ENST00000377487.1_Silent_p.G111G|RASGRP2_ENST00000394432.3_Silent_p.G111G|RASGRP2_ENST00000354024.3_Silent_p.G111G|RASGRP2_ENST00000377486.3_Silent_p.G111G|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377497.3_Silent_p.G111G|RASGRP2_ENST00000394429.1_3'UTR			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	111	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGTCGGTTCCCTTCTTGGT	0.577000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	27	12					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512862	42512862	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:42512862G>A	ENST00000398675.3	-	3	658	c.426C>T	c.(424-426)atC>atT	p.I142I	GXYLT1_ENST00000280876.6_Silent_p.I111I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	142					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GAAGAGGTTTGATGCTGAAAA	0.373000													5	61					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177609	223177609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:223177609C>T	ENST00000284476.6	+	8	3034	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	957					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAGCTGAGTTCGGCCCCTGAA	0.502000													17	24					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248901	55248901	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:55248901G>A	ENST00000308796.6	+	2	106	c.58_splice	c.e2-1	p.Q20_splice	MUCL1_ENST00000546809.1_Splice_Site_p.E15_splice|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	20						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CTCTTTCAGAGAATCCGACAA	0.418000													10	16					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434269	100434269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:100434269C>T	ENST00000514652.1	+	2	385	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	C4orf17_ENST00000326581.4_Nonsense_Mutation_p.Q11*			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATCTGCTCTTCAGATCGAGGG	0.463000													34	42					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287174	52287174	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:52287174C>T	ENST00000356297.4	-	18	3775	c.3675G>A	c.(3673-3675)cgG>cgA	p.R1225R	PXDNL_ENST00000543296.1_Silent_p.R1225R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1225					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCTCTTAGCCGCTGAAACT	0.393000													24	29					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51532448	51532448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:51532448C>T	ENST00000250352.11	-	6	1071	c.398G>A	c.(397-399)gGa>gAa	p.G133E	KLK12_ENST00000250351.4_Missense_Mutation_p.G243E|KLK12_ENST00000319590.4_3'UTR|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000525263.1_3'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	0	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCAAGAAGTTCCCAGGCCAAC	0.532000													26	52					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3702286	3702286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:3702286G>A	ENST00000382622.3	+	10	1513	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	PRMT8_ENST00000452611.2_Missense_Mutation_p.D366N|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	375					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTTCACAGTAGACTTGGATTT	0.522000													10	9					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	54					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147842	27147842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:27147842C>T	ENST00000288699.6	+	3	507	c.349C>T	c.(349-351)Cga>Tga	p.R117*	DPYSL5_ENST00000401478.1_Nonsense_Mutation_p.R117*	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	117					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGAAGTGCCGAGGTCTGGC	0.617000													10	21					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819562	159819562	+	RNA	SNP	A	A	G			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:159819562A>G	ENST00000497452.1	-	0	517																											TTAGAGAGAGAGCAGGAGCAT	0.438000													82	125					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829777	106829777	+	RNA	SNP	C	C	T	rs11546807		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106829777C>T	ENST00000390616.2	-	0	216																											GCTGGCGGATCCAGCTCCAGT	0.572000													42	71					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011715	31011715	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:31011715C>T	ENST00000215838.3	+	6	1375	c.881C>T	c.(880-882)cCc>cTc	p.P294L	TCN2_ENST00000405742.3_Missense_Mutation_p.P290L|TCN2_ENST00000407817.3_Missense_Mutation_p.P267L			P20062	TCO2_HUMAN	transcobalamin II	294					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTGCTGCCCGTTCTGAAC	0.527000													39	71					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:94654429C>T	ENST00000260526.6	-	15	1827	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	549					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATCTAGATTCGCTGCTCCCT	0.358000													34	10					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390684	48390684	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:48390684G>A	ENST00000224600.4	-	1	307	c.194C>T	c.(193-195)tCa>tTa	p.S65L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	65	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGCGGGTCTGAGATGCTCAG	0.607000													27	20					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528939	94528939	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:94528939G>A	ENST00000330836.5	-	3	878	c.747C>T	c.(745-747)atC>atT	p.I249I	DDX24_ENST00000555054.1_Silent_p.I206I|DDX24_ENST00000544005.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	249	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAATCATTGGGATGGCAAAGG	0.448000													30	57					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754821	115754821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:115754821C>T	ENST00000264363.2	-	12	3015	c.2337G>A	c.(2335-2337)atG>atA	p.M779I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	779	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGACTTCATCCATCACAGTAG	0.358000													10	16					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45688382	45688382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:45688382G>A	ENST00000297323.7	+	5	1156	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	ADCY1_ENST00000432715.1_Missense_Mutation_p.M153I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	378					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GACTCGACATGATTGATACCA	0.572000													24	44					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414910	21414910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr10:21414910G>A	ENST00000534331.1	-	2	360	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Nonsense_Mutation_p.Q94*	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	104										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GGAGCTGCCTGGATGGGCGGC	0.567000													29	44					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239063	104239063	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:104239063G>A	ENST00000374851.1	-	4	1459	c.312C>T	c.(310-312)atC>atT	p.I104I	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.I104I|TMEM246_ENST00000374848.3_Silent_p.I104I|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	104						integral to membrane											TGATGATGGTGATCACCAGCC	0.612000													36	47					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904337	180904337	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:180904337C>T	ENST00000367588.4	+	5	1347	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S52F	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	431										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCGATTCCTCCAGCGGAGAG	0.677000													7	15					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388776	128388776	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:128388776G>A	ENST00000368227.3	-	12	2411	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	PTPRK_ENST00000368213.5_Missense_Mutation_p.P682L|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Missense_Mutation_p.P682L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P682L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.P682L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P682L|PTPRK_ENST00000532331.1_Missense_Mutation_p.P682L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	682					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAACGGGGCAGGCTCAGGTAG	0.537000													28	49					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372726	126372726	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:126372726G>A	ENST00000394329.3	+	9	10568	c.10555G>A	c.(10555-10557)Gaa>Aaa	p.E3519K	FAT4_ENST00000335110.5_Missense_Mutation_p.E1817K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3519	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAGTCATGGAAAACAAACG	0.493000													51	86					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:11918291G>A	ENST00000376468.3	-	2	465	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602000													17	6					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246254	100246254	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:100246254G>A	ENST00000160382.5	-	7	700	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	198					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCATGGAGATGAAGTCCCCTG	0.612000													23	25					0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35562910	35562910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:35562910C>T	ENST00000399742.2	-	3	524	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	152										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCCAGCTGCCCCTCCGGCTCT	0.567000													34	50					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979937	102979937	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:102979937C>T	ENST00000372617.4	-	2	511	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	31						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATTTGACTTCCTCTTTTGCC	0.517000													11	1					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39002899	39002899	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:39002899C>T	ENST00000355481.4	+	63	9379	c.9248C>T	c.(9247-9249)tCa>tTa	p.S3083L	RYR1_ENST00000359596.3_Missense_Mutation_p.S3083L|RYR1_ENST00000360985.3_Missense_Mutation_p.S3083L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3083					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGATGAAGTCAGGCCCTGAG	0.612000													45	62					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19559790	19559790	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:19559790G>A	ENST00000176643.6	+	4	1029	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.E195K|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.E195K|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.E195K|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.E195K			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	195					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AATTGTCATGGAAGCTGCTGC	0.458000													12	15					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731309	92731309	+	Missense_Mutation	SNP	C	C	T	rs138600971	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:92731309C>T	ENST00000379958.2	-	3	4371	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1368						cytoplasm		p.E1368K(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGTATATTCGTTCACTATA	0.348000													34	97					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178566982	178566982	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:178566982C>T	ENST00000251582.7	-	11	1785	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	562	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCCCAGCTGCCGTCCCGTTTG	0.592000													87	186					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785470	60785470	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:60785470C>A	ENST00000313421.7	+	11	2008	c.1822C>A	c.(1822-1824)Cag>Aag	p.Q608K	CD6_ENST00000352009.5_Missense_Mutation_p.Q576K|CD6_ENST00000346437.4_Missense_Mutation_p.Q535K|CD6_ENST00000452451.2_Missense_Mutation_p.Q567K|CD6_ENST00000344028.5_Missense_Mutation_p.Q576K	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	608					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCCGGCACCCAGCCAGCCTT	0.597000													20	21					1.33834e-09	1.34284e-09	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50850724	50850724	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:50850724C>T	ENST00000404971.1	-	7	2300	c.961G>A	c.(961-963)Gga>Aga	p.G321R	NRXN1_ENST00000406859.3_Missense_Mutation_p.G288R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G288R|NRXN1_ENST00000406316.2_Missense_Mutation_p.G288R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G288R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G288R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	288	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTCAGATCCTTTGAACGTG	0.363000													15	26					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													5	95					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951132	38951132	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:38951132G>A	ENST00000355481.4	+	20	2609	c.2478G>A	c.(2476-2478)aaG>aaA	p.K826K	RYR1_ENST00000359596.3_Silent_p.K826K|RYR1_ENST00000360985.3_Silent_p.K826K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	826					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCCATCAAGGAGTATCGAC	0.642000													69	89					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16281062	16281062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:16281062C>T	ENST00000205557.7	-	14	1815	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	596					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCAAAGGACACCCGGGCCTAG	0.552000											OREG0023640	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417853	57417853	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:57417853C>T	ENST00000543257.1	-	6	944	c.377_splice	c.e6-1	p.G126_splice	C8B_ENST00000535057.1_Splice_Site_p.G116_splice|C8B_ENST00000371237.4_Splice_Site_p.G178_splice	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	178	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAAATTTATCCTGTGAGGAA	0.448000													88	34					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530480	140530480	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr5:140530480G>A	ENST00000231136.1	+	1	642	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PCDHB6_ENST00000543635.1_Silent_p.L78L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCGCGCTGGATGGCGGGT	0.602000													35	68					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725444	106725444	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:106725444G>A	ENST00000390609.2	-	0	186																											AGAGTCTCAGGGACCCCCCAG	0.587000													80	219					0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29992787	29992787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:29992787G>A	ENST00000376314.2	-	2	273	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	54					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACATACTTGGGATCCACACAG	0.408000													68	60					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147019005	147019005	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:147019005C>T	ENST00000218200.8	+	11	1240	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	FMR1_ENST00000370477.1_Silent_p.S337S|FMR1_ENST00000370475.4_Silent_p.S337S|FMR1_ENST00000370470.1_Silent_p.S337S|FMR1_ENST00000370471.3_Silent_p.S337S|FMR1_ENST00000440235.2_Silent_p.S5S|FMR1_ENST00000439526.2_Silent_p.S335S	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	337					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAATTCCCTTCCTTCCA	0.328000									Fragile X syndrome				34	11					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627285	46627285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:46627285C>T	ENST00000341415.2	-	3	232	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	70						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CAGGTGGAGCCACAGCGGCGG	0.542000													55	87					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2841211	2841211	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:2841211C>T	ENST00000380445.3	+	5	558	c.486C>T	c.(484-486)ctC>ctT	p.L162L	VPS16_ENST00000380469.3_Silent_p.L162L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	162					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGGGTGACCTCAAACTCCGCC	0.582000													14	29					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17395640	17395640	+	Missense_Mutation	SNP	C	C	T	rs148845742	byFrequency	TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:17395640C>T	ENST00000375486.4	-	16	1960	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	PADI2_ENST00000444885.2_Missense_Mutation_p.D517N|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAAATGTCGTCGATGAAGGTG	0.597000													55	34					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790149	46790149	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:46790149G>A	ENST00000262738.3	-	14	5853	c.5854C>T	c.(5854-5856)Ccg>Tcg	p.P1952S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.P1952S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGGGGCACGGAAGGTCGAGT	0.562000													16	35					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210823	30210823	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:30210823G>A	ENST00000518096.1	+	0	1435																											AGAAGAGGAGGAGGATTTCGG	0.572000													23	33					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769397	57769397	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:57769397G>A	ENST00000371030.2	+	1	3323	c.3323G>A	c.(3322-3324)gGg>gAg	p.G1108E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1108						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGCCTCCTGGGAATGCCCCA	0.652000													17	43					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903441	166903441	+	Missense_Mutation	SNP	C	C	T	rs121918768		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:166903441C>T	ENST00000423058.2	-	9	1233	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V406I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V406I|SCN1A_ENST00000375405.3_Missense_Mutation_p.V406I|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	406			V -> F (in SMEI; dbSNP:rs121918768).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGAAAATGACCAATACAAAA	0.398000													28	53					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727586	20727586	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:20727586G>A	ENST00000427401.4	-	4	1517	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	475					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.408000													25	23					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24898436	24898436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:24898436C>T	ENST00000382760.2	+	4	658	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	UPB1_ENST00000326010.5_Intron|UPB1_ENST00000413389.2_Intron			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	0	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ccacctggtccaagcccctgg	0.542000													58	74					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172674552	172674552	+	Silent	SNP	C	C	T	rs138951243		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:172674552C>T	ENST00000351008.3	-	6	1179	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	332					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTATTTTTGTCGCAAATGGTG	0.368000													12	27					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7711206	7711206	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:7711206C>T	ENST00000441779.2	+	16	1498	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	STXBP2_ENST00000414284.2_Silent_p.T473T|STXBP2_ENST00000221283.5_Silent_p.T476T|STXBP2_ENST00000602355.1_Silent_p.T11T	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	476					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCCGCTGGACCCCGGTCATCA	0.687000													6	19					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991234	144991234	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr8:144991234G>A	ENST00000322810.4	-	32	13335	c.13166C>T	c.(13165-13167)tCc>tTc	p.S4389F	PLEC_ENST00000354589.3_Missense_Mutation_p.S4252F|PLEC_ENST00000527096.1_Missense_Mutation_p.S4275F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4256F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4279F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4238F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4230F|PLEC_ENST00000398774.2_Missense_Mutation_p.S4220F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4252F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4389	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGGAGGAGGATCCCACCGA	0.687000													44	71					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971053	21971053	+	Missense_Mutation	SNP	G	G	A	rs137854598		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:21971053G>A	ENST00000304494.5	-	2	575	c.305C>T	c.(304-306)gCg>gTg	p.A102V	CDKN2A_ENST00000479692.2_Missense_Mutation_p.A51V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A51V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A102V|CDKN2A_ENST00000579755.1_Silent_p.G116G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A51V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A102V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A102V|CDKN2A_ENST00000361570.3_Silent_p.G157G|CDKN2A_ENST00000530628.2_Silent_p.G116G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A51V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A51V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	102			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A102V(3)|p.A102E(2)|p.H83fs*2(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGCCGCGCCCCGGCCCG	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			30	4					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205504	70205504	+	Silent	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr18:70205504C>T	ENST00000269503.4	-	5	1355	c.582G>A	c.(580-582)agG>agA	p.R194R	CBLN2_ENST00000584764.1_Silent_p.R78R|CBLN2_ENST00000581073.1_Silent_p.R80R|CBLN2_ENST00000585159.1_Silent_p.R194R|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	194	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTTTGTCTTCCCTTTCCATGA	0.502000													45	76					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118582005	118582005	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:118582005C>T	ENST00000336338.5	-	23	3294	c.3229G>A	c.(3229-3231)Gac>Aac	p.D1077N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1077						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTTAGGGTCATTTAAATGA	0.383000													22	10					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151855960	151855960	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr7:151855960G>A	ENST00000355193.2	-	44	11876	c.11658C>T	c.(11656-11658)acC>acT	p.T3886T	KMT2C_ENST00000262189.6_Silent_p.T3886T					lysine (K)-specific methyltransferase 2C																		GTTTCAAGTGGGTAAACGTGT	0.483000													111	277					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892322	9892322	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr16:9892322C>T	ENST00000396573.2	-	12	2478		c.e12-1		GRIN2A_ENST00000404927.2_Splice_Site|GRIN2A_ENST00000535259.1_Splice_Site|GRIN2A_ENST00000562109.1_Splice_Site|GRIN2A_ENST00000330684.3_Splice_Site|GRIN2A_ENST00000396575.2_Splice_Site	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCAGCTTCCTGAAATGACA	0.542000													15	23					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943159	6943159	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:6943159G>A	ENST00000317834.3	+	1	955	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTTGAGGAACAAAGATG	0.423000													44	50					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29272071	29272071	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:29272071G>A	ENST00000330889.3	+	6	992	c.657_splice	c.e6+1	p.K219_splice	ADAP2_ENST00000580525.1_Splice_Site_p.K225_splice	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	219	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGTGGGAAGGTGAGATGCC	0.592000													9	28					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766052	18766052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:18766052C>T	ENST00000304081.4	-	4	551	c.451G>A	c.(451-453)Gag>Aag	p.E151K	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E211K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E211K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E211K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCGGATTCTCTTGCATTTTG	0.701000													16	24					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886278	55886278	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr12:55886278G>A	ENST00000379662.1	+	1	132	c.132G>A	c.(130-132)ggG>ggA	p.G44G	OR6C68_ENST00000548615.1_Silent_p.G39G|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						GTGTAACAGGGAAACTGACCA	0.393000													56	54					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chrX:140995253C>T	ENST00000285879.4	+	4	2349	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	688							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)			55	18					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138613105	138613105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr6:138613105C>T	ENST00000251691.4	+	19	3449	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1095					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCCGGGGTCGGGCCTCCGA	0.751000													5	7					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639317	38639317	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr3:38639317G>A	ENST00000413689.1	-	14	2358	c.2165C>T	c.(2164-2166)aCc>aTc	p.T722I	SCN5A_ENST00000333535.4_Missense_Mutation_p.T722I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T722I|SCN5A_ENST00000455624.2_Missense_Mutation_p.T722I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T722I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T722I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T722I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T722I|SCN5A_ENST00000425664.1_Missense_Mutation_p.T722I|SCN5A_ENST00000414099.2_Missense_Mutation_p.T722I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	722					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATAGTGATGGTGAGGTCAGT	0.542000													35	49					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1309274	1309274	+	Silent	SNP	C	C	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:1309274C>A	ENST00000303400.4	+	3	405	c.342C>A	c.(340-342)ccC>ccA	p.P114P	MAEA_ENST00000452175.2_Intron|MAEA_ENST00000264750.6_Silent_p.P114P|MAEA_ENST00000510794.1_Silent_p.P113P|MAEA_ENST00000514708.1_Silent_p.P114P|MAEA_ENST00000505839.1_Silent_p.P66P|MAEA_ENST00000505177.2_Silent_p.P114P	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	114	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCGACCAGCCCGCGGCGGCCA	0.647000													31	101					1.08312e-15	1.08859e-15	1	1	0
CDC45	8318	broad.mit.edu	37	22	19496196	19496196	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr22:19496196C>T	ENST00000407835.1	+	14	1455	c.1199C>T	c.(1198-1200)gCt>gTt	p.A400V	CDC45_ENST00000404724.3_Missense_Mutation_p.A354V|CDC45_ENST00000437685.2_Missense_Mutation_p.A432V|CDC45_ENST00000263201.1_Missense_Mutation_p.A400V			O75419	CDC45_HUMAN	cell division cycle 45	400					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTCATCCAGGCTCTGGACAGC	0.587000													17	26					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242142852	242142852	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:242142852G>A	ENST00000274979.8	+	9	1093	c.990G>A	c.(988-990)caG>caA	p.Q330Q	ANO7_ENST00000402430.3_Silent_p.Q329Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	330						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACAAGTACCAGCCCCTGGACC	0.687000													5	8					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928321	6928321	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr19:6928321G>A	ENST00000381404.4	+	16	2262	c.2232_splice	c.e16+1	p.R744_splice	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000312053.4_Intron	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	763					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGCTGAGAGGGTCACTTATT	0.552000													12	14					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848418	78848418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr9:78848418G>A	ENST00000545128.1	+	22	3310	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	625					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCCTCATGGAAATTTGAAT	0.502000													22	48					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941118	52941118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:52941118G>A	ENST00000371544.3	-	13	2375	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R705W	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	705					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAAAATACCGATAAGCTGCC	0.418000													39	15					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470795	72470795	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:72470795G>A	ENST00000360141.3	+	3	792	c.504G>A	c.(502-504)caG>caA	p.Q168Q	CD300A_ENST00000310828.5_Silent_p.Q55Q|CD300A_ENST00000392625.3_Silent_p.Q55Q|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.Q38Q	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	168					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCAGCATCCAGGAGGAAACTG	0.577000													54	49					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054770	242054770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:242054770G>A	ENST00000403638.3	-	13	3222	c.3131C>T	c.(3130-3132)cCc>cTc	p.P1044L	PASK_ENST00000405260.1_Missense_Mutation_p.P1044L|PASK_ENST00000358649.4_Missense_Mutation_p.P1044L|PASK_ENST00000234040.4_Missense_Mutation_p.P1044L|PASK_ENST00000539818.1_Missense_Mutation_p.P828L|PASK_ENST00000544142.1_Missense_Mutation_p.P858L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1044	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)		CCCAAGTTTGGGATCCTCAAT	0.453000													30	39					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25416220	25416220	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr4:25416220G>A	ENST00000315368.3	+	25	1866		c.e25-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTTTTCTTAGGTGGAATAAT	0.244000													5	7					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008287	27008287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr17:27008287C>T	ENST00000314616.6	+	12	1646	c.1363C>T	c.(1363-1365)Caa>Taa	p.Q455*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q455*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	455					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAAGGATGTCCAATCAATGGA	0.438000													24	39					0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264349	5264349	+	RNA	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:5264349G>A	ENST00000454892.1	-	0	147					NR_001589.1																						GAAGTTCTCAGGGTCCACGTG	0.468000													13	10					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	G	A			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr1:248436940G>A	ENST00000318021.2	-	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GGCTCAGGAGGAAGTACATGG	0.532000													40	112					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383528	85383528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr15:85383528C>T	ENST00000258888.5	+	5	1791	c.1624C>T	c.(1624-1626)Cgt>Tgt	p.R542C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	542					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAAAGCCGCCGTTCTTCAGA	0.587000													27	31					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152349000	152349001	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr2:152349000_152349001delAT	ENST00000427231.2	-	177	24975_24976	c.24773_24774delAT	c.(24772-24774)tfs	p.Y8258fs	NEB_ENST00000509223.2_Frame_Shift_Del_p.Y171fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Y8258fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Y6402fs|NEB_ENST00000397336.2_Frame_Shift_Del_p.Y233fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Y8258fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Y6402fs|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Frame_Shift_Del_p.Y8258fs|RIF1_ENST00000457745.1_Intron	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6568					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)		AACTATCAGAATAAAGAACCTG	0.490													20	38	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		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						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													3	6	---	---	---	---					
RCBTB1	55213	broad.mit.edu	37	13	50134104	50134104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr13:50134104delC	ENST00000378302.2	-	5	654	c.394delG	c.(394-396)aafs	p.E132fs	RCBTB1_ENST00000258646.3_Frame_Shift_Del_p.E132fs|RCBTB1_ENST00000546015.1_Frame_Shift_Del_p.E132fs	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	132					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CAAGCTACTTCCACCACTTGC	0.453													69	125	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100741052	100741052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr14:100741052delT	ENST00000262238.4	+	3	1120	c.860delT	c.(859-861)atfs	p.I287fs		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	287	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCAAGAAAAATTAAAGAAGAT	0.358													11	22	---	---	---	---					
CBFA2T2	9139	broad.mit.edu	37	20	32207397	32207397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A5GS-06A-11D-A27K-08	TCGA-D3-A5GS-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	240d84f0-597b-4ab4-a32e-a7819b940171	1d445ec4-16b1-47b1-a2b8-5faaf804c4bc	g.chr20:32207397delG	ENST00000346541.3	+	5	1059	c.522delG	c.(520-522)gtfs	p.V174fs	CBFA2T2_ENST00000397798.2_Frame_Shift_Del_p.V145fs|CBFA2T2_ENST00000342704.5_Frame_Shift_Del_p.V165fs|CBFA2T2_ENST00000344201.3_Frame_Shift_Del_p.V145fs|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Frame_Shift_Del_p.V145fs|CBFA2T2_ENST00000359606.3_Frame_Shift_Del_p.V184fs|CBFA2T2_ENST00000375279.2_Frame_Shift_Del_p.V174fs	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	174	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTCCTTTTGTGATTCCATTTC	0.343													22	30	---	---	---	---					
