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
ABCC3	8714	broad.mit.edu	37	17	48755144	48755144	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:48755144G>A	ENST00000285238.8	+	24	3498	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1140	ABC transmembrane type-1 2.				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)	GAAGCGGCTGGAATCAGTCAG	0.572000													90	167					0	0	0.048971	0	0
STON2	85439	broad.mit.edu	37	14	81744869	81744869	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:81744869G>A	ENST00000555447.1	-	6	1198	c.786C>T	c.(784-786)atC>atT	p.I262I	STON2_ENST00000267540.2_Silent_p.I262I|STON2_ENST00000556280.1_5'UTR	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	262					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTACATCTGGGATCACAGATG	0.458000													33	29					0	0	0.045705	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745897	140745897	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140745897G>A	ENST00000518069.1	+	1	2000	c.2000G>A	c.(1999-2001)aGg>aAg	p.R667K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCGACAGGATCCCTGAC	0.612000													27	167					0	0	0.108266	0	0
DIO2	1734	broad.mit.edu	37	14	80669111	80669111	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:80669111G>A	ENST00000557010.1	-	4	1128	c.743C>T	c.(742-744)tCc>tTc	p.S248F	DIO2_ENST00000438257.4_Missense_Mutation_p.S248F|DIO2_ENST00000555750.1_Missense_Mutation_p.S284F|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	248					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAGGTTGTAGGAGAAGGGGCC	0.438000													12	11					0	0	0.093190	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754895	94754895	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94754895C>T	ENST00000554723.1	-	3	1258	c.838_splice	c.e3-1	p.G280_splice	SERPINA10_ENST00000393096.1_Splice_Site_p.G240_splice|SERPINA10_ENST00000261994.4_Splice_Site_p.G240_splice|SERPINA10_ENST00000554173.1_Splice_Site_p.G240_splice			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	240					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCAACCATTTCCCTGAACAAG	0.448000													22	17					0	0	0.055883	0	0
MGAM	8972	broad.mit.edu	37	7	141750058	141750058	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:141750058C>T	ENST00000475668.2	+	23	2665	c.2611C>T	c.(2611-2613)Ctt>Ttt	p.L871F	MGAM_ENST00000549489.2_Missense_Mutation_p.L871F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	871	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTGTATCTTTTATGTGA	0.413000													53	167					0	0	0.048971	0	0
PDPR	55066	broad.mit.edu	37	16	70166106	70166106	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70166106C>T	ENST00000288050.4	+	9	1857	c.900C>T	c.(898-900)atC>atT	p.I300I	PDPR_ENST00000568530.1_Silent_p.I300I|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.I200I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	300					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGGGTGGCATCCTGTCTGGGG	0.473000													15	45					0	0	0.033300	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733754	28733754	+	RNA	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:28733754G>T	ENST00000550043.1	+	0	159																											GTTGCCCTCGGGCGCCATGTC	0.677000													6	3					2.7689e-08	2.80072e-08	0.029380	1	0
DEPDC1	55635	broad.mit.edu	37	1	68948079	68948079	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:68948079G>A	ENST00000456315.2	-	8	1526	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	471					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTTCCTCTGAATGAAGATT	0.368000													35	12					0	0	0.069456	0	0
SACS	26278	broad.mit.edu	37	13	23908553	23908553	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:23908553G>A	ENST00000382298.3	-	10	10050	c.9462C>T	c.(9460-9462)ccC>ccT	p.P3154P	SACS_ENST00000402364.1_Silent_p.P2404P|SACS_ENST00000382292.3_Silent_p.P3154P	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3154					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)		TGATGAGAAGGGGCAATCCCT	0.348000													9	16					0	0	0.058154	0	0
AKAP13	11214	broad.mit.edu	37	15	86266551	86266551	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:86266551G>A	ENST00000394518.2	+	26	6840	c.6745_splice	c.e26+1	p.E2249_splice	AKAP13_ENST00000361243.2_Splice_Site_p.E2253_splice|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Splice_Site_p.E494_splice	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2249	Interaction with ESR1.|PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGTTGAAAGGTAAGGCTTG	0.423000													18	25					0	0	0.062417	0	0
ASTN2	23245	broad.mit.edu	37	9	119903704	119903704	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:119903704C>T	ENST00000313400.4	-	4	1169	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.E357K|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	357						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGAAACTCTCCTTGAACTTC	0.592000													26	37					0	0	0.108266	0	0
PXDN	7837	broad.mit.edu	37	2	1643086	1643086	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:1643086C>T	ENST00000252804.4	-	20	4111	c.4061G>A	c.(4060-4062)cGg>cAg	p.R1354Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1354					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGTATTTTCCGTGGTCTTGT	0.577000													6	14					0	0	0.021553	0	0
APLP1	333	broad.mit.edu	37	19	36362815	36362815	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36362815G>A	ENST00000221891.4	+	6	919	c.727G>A	c.(727-729)Gag>Aag	p.E243K	APLP1_ENST00000537454.2_Missense_Mutation_p.E204K|APLP1_ENST00000586861.1_Missense_Mutation_p.E237K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	243	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GGCTGAGGACGAGGAAGAGGA	0.632000													39	59					0	0	0.092188	0	0
GPR112	139378	broad.mit.edu	37	X	135477634	135477634	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:135477634C>T	ENST00000394143.1	+	19	8457	c.8166C>T	c.(8164-8166)acC>acT	p.T2722T	GPR112_ENST00000370652.1_Silent_p.T2722T|GPR112_ENST00000287534.4_Silent_p.T2475T|GPR112_ENST00000412101.1_Silent_p.T2517T|GPR112_ENST00000394141.1_Silent_p.T2517T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2722	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCACCTCACCCATTTTGGAG	0.388000													13	3					0	0	0.105934	0	0
NEBL	10529	broad.mit.edu	37	10	21101806	21101806	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:21101806G>A	ENST00000377122.4	-	24	2806	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	NEBL_ENST00000377159.4_Missense_Mutation_p.P107S|NEBL_ENST00000417816.2_Missense_Mutation_p.P141S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	804					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTGTCACAGGATCGTCCACG	0.468000													24	27					0	0	0.083992	0	0
CGNL1	84952	broad.mit.edu	37	15	57731085	57731085	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:57731085C>T	ENST00000281282.5	+	2	966	c.888C>T	c.(886-888)tcC>tcT	p.S296S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	296	Head.|Poly-Ser.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCGGAGGTCCTCCTCGTCAT	0.552000													7	17					0	0	0.038147	0	0
KRT80	144501	broad.mit.edu	37	12	52574371	52574371	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52574371G>A	ENST00000313234.5	-	4	689	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	KRT80_ENST00000394815.2_Missense_Mutation_p.H198Y	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	198	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCAGTCCGATGAAGACACTCT	0.572000													36	68					0	0	0.080422	0	0
CELSR3	1951	broad.mit.edu	37	3	48697088	48697088	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:48697088C>T	ENST00000544264.1	-	1	3260	c.2980G>A	c.(2980-2982)Ggc>Agc	p.G994S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G994S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	994	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGACCCGGCCATTGGCATGA	0.547000													16	21					0	0	0.038395	0	0
ANKS3	124401	broad.mit.edu	37	16	4777098	4777098	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:4777098A>C	ENST00000304283.4	-	4	545	c.251T>G	c.(250-252)aTc>aGc	p.I84S	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Missense_Mutation_p.I11S|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CAGGTGCACGATTGTGTCGTG	0.542000													17	29					0	0	0.038395	0	0
DPYSL5	56896	broad.mit.edu	37	2	27157447	27157447	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27157447G>A	ENST00000288699.6	+	8	950	c.790_splice	c.e8-1	p.G264_splice	DPYSL5_ENST00000401478.1_Splice_Site_p.G264_splice	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	264					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)					TTCTTCCAGGGAAGGTTGTGC	0.572000													44	69					0	0	0.111260	0	0
ADAM21	8747	broad.mit.edu	37	14	70925587	70925587	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:70925587C>T	ENST00000603540.1	+	2	1629	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.F457F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	457	Disintegrin.				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)		ACTGCAAGTTCATGCCATCAG	0.488000													26	6					0	0	0.099896	0	0
PIGN	23556	broad.mit.edu	37	18	59763177	59763177	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:59763177G>A	ENST00000357637.5	-	23	2499	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	PIGN_ENST00000400334.3_Missense_Mutation_p.S695F	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	695					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CACAACCAAGGAAGAGGCTGC	0.453000													8	12					0	0	0.047766	0	0
ZNF229	7772	broad.mit.edu	37	19	44934706	44934706	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44934706C>T	ENST00000291187.4	-	6	554	c.232G>A	c.(232-234)Gga>Aga	p.G78R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.G84R|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTATCCTTTCCATTCTTGTCT	0.398000													8	13					0	0	0.047766	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431589	140431589	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140431589C>T	ENST00000306549.3	+	1	611	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGGTATTTCCACCTGCACA	0.567000													25	17					0	0	0.037714	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958119	57958119	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:57958119C>T	ENST00000311591.3	+	1	214	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCGTGGCGATCGTCGGCTCCA	0.527000													18	16					0	0	0.033300	0	0
ZNF215	7762	broad.mit.edu	37	11	6964841	6964841	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:6964841G>A	ENST00000278319.5	+	6	1269	c.681G>A	c.(679-681)atG>atA	p.M227I	ZNF215_ENST00000414517.2_Missense_Mutation_p.M227I|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.M227I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	227	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GATGGATAATGGAGAAAGAAA	0.353000													40	83					0	0	0.045515	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414891	88414891	+	Missense_Mutation	SNP	C	C	T	rs143716987		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88414891C>T	ENST00000418378.1	-	5	1632	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.R354K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R229K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	354					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)		TGCACTGTGCCTGGGGCCATC	0.507000													17	35					0	0	0.043863	0	0
C1orf172	126695	broad.mit.edu	37	1	27278629	27278629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27278629C>T	ENST00000320567.5	-	2	331	c.243G>A	c.(241-243)tgG>tgA	p.W81*		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	81	Cys-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTCCCACACCCAGGGTCGCC	0.672000													12	31					0	0	0.093190	0	0
PXDNL	137902	broad.mit.edu	37	8	52320904	52320904	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:52320904C>T	ENST00000356297.4	-	17	3380	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E1094K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1094					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)				ATCCCACCTTCCTTGATTATT	0.532000													43	41					0	0	0.048971	0	0
ZNF83	55769	broad.mit.edu	37	19	53122271	53122271	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53122271C>T	ENST00000600714.1	-	4	342	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.E20E|ZNF83_ENST00000596930.1_Silent_p.E20E|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.E20E|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000544146.1_5'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	119						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ATTTCCACTCCTCCTGAGAGA	0.443000													15	25					0	0	0.049695	0	0
ECE1	1889	broad.mit.edu	37	1	21551745	21551745	+	Missense_Mutation	SNP	G	G	A	rs144860890	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:21551745G>A	ENST00000415912.2	-	17	2115	c.1990C>T	c.(1990-1992)Cgg>Tgg	p.R664W	ECE1_ENST00000374893.6_Missense_Mutation_p.R680W|ECE1_ENST00000264205.6_Missense_Mutation_p.R677W|ECE1_ENST00000436918.2_Missense_Mutation_p.R680W|ECE1_ENST00000357071.4_Missense_Mutation_p.R668W	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	680					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTCTCACCCGATAGGCCGCC	0.657000													45	30					0	0	0.048971	0	0
PID1	55022	broad.mit.edu	37	2	229890692	229890692	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:229890692C>T	ENST00000392054.3	-	4	742	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	PID1_ENST00000392055.3_Missense_Mutation_p.E104K|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.E55K|PID1_ENST00000354069.6_Missense_Mutation_p.E137K	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	137	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCCGGATTTCCAGGAGGGCA	0.557000													37	25					0	0	0.069456	0	0
IQSEC3	440073	broad.mit.edu	37	12	176506	176506	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:176506A>G	ENST00000538872.1	+	1	576	c.458A>G	c.(457-459)aAg>aGg	p.K153R	IQSEC3_ENST00000326261.4_Missense_Mutation_p.K153R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	153					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACAAGGAGAAGGAGCGTCCC	0.677000													10	31					0	0	0.069234	0	0
UBR5	51366	broad.mit.edu	37	8	103307739	103307739	+	Silent	SNP	G	G	A	rs139159922	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:103307739G>A	ENST00000520539.1	-	30	4440	c.3834C>T	c.(3832-3834)ttC>ttT	p.F1278F	UBR5_ENST00000521922.1_Silent_p.F1272F|UBR5_ENST00000220959.4_Silent_p.F1278F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1278					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGTACTAAGAATAGTAAGA	0.488000													39	42					0	0	0.092188	0	0
OBSCN	84033	broad.mit.edu	37	1	228520616	228520616	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:228520616C>T	ENST00000570156.2	+	68	18653	c.18579C>T	c.(18577-18579)ttC>ttT	p.F6193F	OBSCN_ENST00000284548.11_Silent_p.F5236F|OBSCN_ENST00000366707.4_Silent_p.F2870F|OBSCN_ENST00000366709.4_Silent_p.F2355F|OBSCN_ENST00000422127.1_Silent_p.F5236F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5236	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATCCTACTTCAGTGCCCAAG	0.612000													10	27					0	0	0.080935	0	0
DNAH3	55567	broad.mit.edu	37	16	20998665	20998665	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20998665C>T	ENST00000261383.3	-	47	6987	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2330					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGGTGGTTTCCTTCACCATG	0.423000													27	54					0	0	0.091800	0	0
UROC1	131669	broad.mit.edu	37	3	126202270	126202270	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:126202270C>T	ENST00000290868.2	-	19	1885	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D	UROC1_ENST00000383579.3_Missense_Mutation_p.G671D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	611					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTCCGGGGTACCGTCCAGCAC	0.627000													8	32					0	0	0.047766	0	0
ZNF25	219749	broad.mit.edu	37	10	38242045	38242045	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:38242045G>A	ENST00000302609.7	-	6	593	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACTTCTGGCAGAAGAACTTCC	0.408000													52	62					0	0	0.048971	0	0
PCNA	5111	broad.mit.edu	37	20	5099321	5099321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:5099321G>A	ENST00000379160.3	-	4	564	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	PCNA_ENST00000379143.5_Nonsense_Mutation_p.Q108*	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	108					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACTTTCTCCTGGTCTACCAAA	0.383000								DNA polymerases (catalytic subunits)					28	45					0	0	0.030593	0	0
HDLBP	3069	broad.mit.edu	37	2	242181883	242181883	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:242181883C>T	ENST00000391975.1	-	17	2388	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	HDLBP_ENST00000427183.2_Missense_Mutation_p.E688K|HDLBP_ENST00000391976.2_Missense_Mutation_p.E721K|HDLBP_ENST00000310931.4_Missense_Mutation_p.E721K	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	721	KH 8.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACCTTCTCCTCCGCCAGATGC	0.572000													12	30					0	0	0.080935	0	0
GJB4	127534	broad.mit.edu	37	1	35227594	35227594	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:35227594G>A	ENST00000339480.1	+	2	1109	c.739G>A	c.(739-741)Gat>Aat	p.D247N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	247					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCACCCTGAGGATGGGAACTC	0.617000													25	25					0	0	0.083992	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483585	45483585	+	Silent	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:45483585C>A	ENST00000291574.4	+	7	1132	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	319					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTTGCTGCTCTTCCTGCAGA	0.577000													32	56					2.61193e-14	2.65212e-14	0.041601	1	0
PKD1L2	114780	broad.mit.edu	37	16	81150981	81150981	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:81150981C>T	ENST00000533478.1	-	0	4822				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACTCCTCCCTGTGGTTCC	0.642000													15	18					0	0	0.020292	0	0
DNAJC17	55192	broad.mit.edu	37	15	41065983	41065983	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41065983G>A	ENST00000220496.4	-	10	764	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	245	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCCAACCAGGAAATCTTCAG	0.597000													13	19					0	0	0.020292	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676897	54676897	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:54676897A>G	ENST00000340913.6	+	8	839	c.786A>G	c.(784-786)ggA>ggG	p.G262G	HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	262	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTTACTCTGGAGGAAGCAGAG	0.483000													14	15					0	0	0.028581	0	0
OR9I1	219954	broad.mit.edu	37	11	57886068	57886068	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:57886068G>A	ENST00000302610.1	-	1	848	c.849C>T	c.(847-849)ccC>ccT	p.P283P	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GGTTCAGCATGGGGATGACCA	0.458000													41	55					0	0	0.086207	0	0
SDC1	6382	broad.mit.edu	37	2	20402566	20402566	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:20402566G>A	ENST00000381150.1	-	6	1284	c.894C>T	c.(892-894)gcC>gcT	p.A298A	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Silent_p.A298A|SDC1_ENST00000403076.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	298					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTTCTGGTAGGCCCCGCCGT	0.597000													54	101					0	0	0.048971	0	0
EML2	24139	broad.mit.edu	37	19	46133221	46133221	+	Silent	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:46133221C>A	ENST00000536630.1	-	10	1173	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V	EML2_ENST00000587152.1_Silent_p.V399V|EML2_ENST00000245925.3_Silent_p.V198V|EML2_ENST00000589876.1_Silent_p.V198V|EML2_ENST00000586902.1_5'UTR	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	198					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGACATCCACCACCTTGGTCT	0.527000													14	32					1.3612e-06	1.37553e-06	0.024245	1	0
USH1C	10083	broad.mit.edu	37	11	17517182	17517182	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:17517182G>A	ENST00000005226.7	-	26	2588	c.2589C>T	c.(2587-2589)gtC>gtT	p.V863V	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGAGCTTTCGGACCGGTTGGG	0.582000													48	110					0	0	0.048971	0	0
CDH2	1000	broad.mit.edu	37	18	25593740	25593740	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:25593740G>A	ENST00000269141.3	-	3	729	c.306C>T	c.(304-306)ttC>ttT	p.F102F	CDH2_ENST00000399380.3_Silent_p.F71F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	102					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATATATCAGGAACTTGGCAT	0.458000													45	83					0	0	0.045515	0	0
COL5A1	1289	broad.mit.edu	37	9	137644476	137644476	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:137644476G>A	ENST00000371817.3	+	14	2118	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	568	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCTCACAGGGAGACCTGGCC	0.622000													10	5					0	0	0.058154	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999391	72999391	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72999391A>T	ENST00000322038.5	+	2	2478	c.1894A>T	c.(1894-1896)Aat>Tat	p.N632Y	TSHZ1_ENST00000580243.1_Missense_Mutation_p.N677Y	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	677						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGCAAAAGAGAATAAAGATTT	0.567000													16	39					0	0	0.038395	0	0
TAP2	6891	broad.mit.edu	37	6	32803454	32803454	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32803454G>A	ENST00000374897.2	-	4	836	c.705C>T	c.(703-705)cgC>cgT	p.R235R	TAP2_ENST00000374899.4_Silent_p.R235R|TAP2_ENST00000452392.2_Silent_p.R235R	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	235	ABC transmembrane type-1.				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										CGAGGTCCTGGCGCAGCAGGG	0.592000													21	55					0	0	0.062417	0	0
BTK	695	broad.mit.edu	37	X	100608315	100608315	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:100608315G>A	ENST00000308731.7	-	18	1938	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	BTK_ENST00000372880.1_Missense_Mutation_p.S416F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	592	Protein kinase.		S -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.S592F(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCCCCAGGGAGTAAATTTC	0.438000									Agammaglobulinemia, X-linked				63	21					0	0	0.048971	0	0
NELL1	4745	broad.mit.edu	37	11	20805363	20805363	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:20805363G>A	ENST00000298925.5	+	4	559	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	NELL1_ENST00000357134.5_Missense_Mutation_p.E108K|NELL1_ENST00000532434.1_Missense_Mutation_p.E108K|NELL1_ENST00000325319.5_Missense_Mutation_p.E108K			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	108	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						GTCCATTCGAGAACTGGAGCA	0.413000													15	41					0	0	0.033300	0	0
ZNF536	9745	broad.mit.edu	37	19	31039847	31039847	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:31039847C>T	ENST00000355537.3	+	4	3468	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTTGTAACTTCCCATCAGACT	0.562000													17	45					0	0	0.033300	0	0
UBXN2B	137886	broad.mit.edu	37	8	59329508	59329508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:59329508C>T	ENST00000399598.2	+	2	306	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	62						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GACACCACCTCAACGGTAAGT	0.348000													12	13					0	0	0.093190	0	0
TAOK2	9344	broad.mit.edu	37	16	29997949	29997949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:29997949C>T	ENST00000308893.4	+	16	3399	c.2356C>T	c.(2356-2358)Caa>Taa	p.Q786*	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Nonsense_Mutation_p.Q613*	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	786					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGTCCTGGACCAAAGAATGCT	0.607000													39	47					0	0	0.069456	0	0
CCDC129	223075	broad.mit.edu	37	7	31622797	31622797	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:31622797G>A	ENST00000319386.3	+	9	1769	c.776G>A	c.(775-777)gGa>gAa	p.G259E	CCDC129_ENST00000451887.2_Missense_Mutation_p.G433E|CCDC129_ENST00000409210.1_Missense_Mutation_p.G315E|CCDC129_ENST00000407970.3_Missense_Mutation_p.G407E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	407										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGACTTCAGGAACTGTAGGT	0.318000													36	161					0	0	0.042209	0	0
COG4	25839	broad.mit.edu	37	16	70515342	70515342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70515342G>A	ENST00000323786.5	-	18	2176	c.2155C>T	c.(2155-2157)Ctt>Ttt	p.L719F		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	715	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACCGTGGTAAGGTAGGCAATG	0.597000													44	80					0	0	0.111260	0	0
KRT40	125115	broad.mit.edu	37	17	39138698	39138698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:39138698G>A	ENST00000377755.4	-	3	582	c.548C>T	c.(547-549)tCc>tTc	p.S183F	KRT40_ENST00000398486.2_Missense_Mutation_p.S183F			Q6A162	K1C40_HUMAN	keratin 40	183	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527000													28	52					0	0	0.050027	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370111	35370111	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:35370111G>A	ENST00000373347.1	-	3	1142	c.874C>T	c.(874-876)Cca>Tca	p.P292S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P292S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	292					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GACCCATCTGGACCCTCCAGG	0.647000													26	85					0	0	0.030593	0	0
ZNF98	148198	broad.mit.edu	37	19	22574587	22574587	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:22574587G>A	ENST00000357774.5	-	4	1571	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H484Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTACCTTA	0.378000													12	45					0	0	0.020292	0	0
DNAH3	55567	broad.mit.edu	37	16	20944554	20944554	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20944554G>A	ENST00000261383.3	-	62	12272	c.12273C>T	c.(12271-12273)tcC>tcT	p.S4091S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4091					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGCTCAATGGAGAGGACAT	0.512000													57	93					0	0	0.048971	0	0
ABT1	29777	broad.mit.edu	37	6	26597288	26597288	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26597288G>A	ENST00000274849.1	+	1	109	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	26					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TAGATGCGGAGGAGGAGCAGG	0.612000													12	15					0	0	0.080935	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774561	12774561	+	Missense_Mutation	SNP	C	C	T	rs11554970		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:12774561C>T	ENST00000456935.2	-	5	759	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R240Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	240					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTGCTGGCCCGCCACACCTG	0.622000													10	18					0	0	0.069234	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063201	9063201	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:9063201G>A	ENST00000382496.5	-	18	2981	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	772					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCACGCAGGAAATCCCCAG	0.542000													5	9					0	0	0.021553	0	0
PCM1	5108	broad.mit.edu	37	8	17823907	17823907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:17823907C>T	ENST00000325083.8	+	20	3585	c.3146C>T	c.(3145-3147)cCt>cTt	p.P1049L	PCM1_ENST00000519253.1_Missense_Mutation_p.P1049L|PCM1_ENST00000524226.1_Missense_Mutation_p.P1050L	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1049					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTGCATCTCCTCAAGTACAC	0.378000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								29	67					0	0	0.045705	0	0
GABBR2	9568	broad.mit.edu	37	9	101068621	101068621	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:101068621C>G	ENST00000259455.2	-	15	2470	c.2011G>C	c.(2011-2013)Ggt>Cgt	p.G671R		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	671					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGAAACAACCGAACAACTGA	0.527000													8	15					0	0	0.038147	0	0
DDX60L	91351	broad.mit.edu	37	4	169327157	169327157	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:169327157C>T	ENST00000511577.1	-	24	3404	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	DDX60L_ENST00000505890.1_Missense_Mutation_p.E1053K|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1053K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1053							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)		AAGTTTTCTTCATATTTTCTA	0.303000													7	15					0	0	0.029380	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610257	47610257	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47610257C>T	ENST00000371891.3	+	8	964	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CYP4A22_ENST00000294337.3_Silent_p.L311L|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	311						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAAGGACCTCCGTGCTGAGG	0.552000													45	105					0	0	0.048971	0	0
OR2G3	81469	broad.mit.edu	37	1	247769279	247769279	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247769279A>T	ENST00000320002.2	+	1	424	c.392A>T	c.(391-393)cAc>cTc	p.H131L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAACCCCTCCACTATGTAGTC	0.502000													39	161					0	0	0.111260	0	0
BCAM	4059	broad.mit.edu	37	19	45316579	45316579	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45316579G>A	ENST00000391955.1	+	5	621	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BCAM_ENST00000270233.6_Missense_Mutation_p.E193K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	193	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.E193*(1)		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)				GCAGCGCCTGGAGGTGCCCGT	0.697000													94	143					0	0	0.048971	0	0
COL10A1	1300	broad.mit.edu	37	6	116442961	116442961	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:116442961C>T	ENST00000327673.4	-	2	725	c.318G>A	c.(316-318)ggG>ggA	p.G106G	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G106G|AL121963.1_ENST00000430695.1_Silent_p.F114F			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	106	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CACCTGGTTTCCCTACAGCTG	0.602000													24	17					0	0	0.099896	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20207928	20207928	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:20207928C>T	ENST00000361479.5	+	1	108	c.40C>T	c.(40-42)Cct>Tct	p.P14S	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.P14S	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	14					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GACCGCAGTCCCTGTGTCAGC	0.627000													12	5					0	0	0.020292	0	0
VCAM1	7412	broad.mit.edu	37	1	101190259	101190259	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:101190259C>T	ENST00000294728.2	+	4	842	c.741C>T	c.(739-741)tcC>tcT	p.S247S	VCAM1_ENST00000347652.2_Silent_p.S247S|VCAM1_ENST00000370119.4_Silent_p.S185S|VCAM1_ENST00000370115.1_Silent_p.S247S	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	247	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGACCTGTTCCAGCGAGGGTC	0.418000													38	12					0	0	0.074837	0	0
BRD1	23774	broad.mit.edu	37	22	50217580	50217580	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:50217580G>A	ENST00000216267.8	-	1	872	c.386C>T	c.(385-387)cCt>cTt	p.P129L	BRD1_ENST00000404760.1_Missense_Mutation_p.P129L|BRD1_ENST00000404034.1_Missense_Mutation_p.P129L|BRD1_ENST00000457780.2_Missense_Mutation_p.P129L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	129					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCGGACGGAGGGCTGTACTC	0.632000													43	56					0	0	0.039052	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474955	78474955	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:78474955C>T	ENST00000258873.4	-	7	952	c.747G>A	c.(745-747)atG>atA	p.M249I	ACSBG1_ENST00000560817.1_Missense_Mutation_p.M7I|ACSBG1_ENST00000541759.1_Missense_Mutation_p.M7I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	249					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGAATTCCTCCATCTGTAGCC	0.607000													15	31					0	0	0.024245	0	0
ZNF347	84671	broad.mit.edu	37	19	53644982	53644982	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53644982G>A	ENST00000452676.2	-	5	1528	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZNF347_ENST00000334197.7_Missense_Mutation_p.H367Y|ZNF347_ENST00000601469.2_Missense_Mutation_p.H368Y|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCAGTATGAATTCCTCGA	0.418000													29	44					0	0	0.041601	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424192	69424192	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:69424192G>A	ENST00000333026.3	+	6	785	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	229					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGGTGAGAACGAAGTTTTCAA	0.468000													17	2					0	0	0.033300	0	0
RTF1	23168	broad.mit.edu	37	15	41749994	41749994	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41749994C>T	ENST00000389629.4	+	4	594	c.582C>T	c.(580-582)gcC>gcT	p.A194A		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAGACAGGGCCCGTCTGGAAC	0.478000													46	89					0	0	0.048971	0	0
FLG	2312	broad.mit.edu	37	1	152286961	152286961	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152286961C>T	ENST00000368799.1	-	3	436	c.401G>A	c.(400-402)aGa>aAa	p.R134K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	134					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)			ATTCCCTTTTCTATTGTTTCT	0.363000									Ichthyosis				26	92					0	0	0.041601	0	0
TYW1B	441250	broad.mit.edu	37	7	72286026	72286026	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:72286026G>A	ENST00000438125.1	-	0	268							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CAGATCCAGGGACGTAACTGC	0.368000													32	32					0	0	0.054565	0	0
ZFP37	7539	broad.mit.edu	37	9	115805766	115805766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:115805766C>A	ENST00000374227.3	-	4	1159	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.E393*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.E379*			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGCACATTCATAGGGCTTT	0.418000													26	48					2.61193e-14	2.65212e-14	0.041601	1	0
OR4X2	119764	broad.mit.edu	37	11	48266760	48266760	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:48266760C>T	ENST00000302329.3	+	1	153	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGGAATTTCCTCATTGTGC	0.473000													42	76					0	0	0.039052	0	0
MUC16	94025	broad.mit.edu	37	19	9071831	9071831	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9071831C>T	ENST00000397910.4	-	3	15818	c.15615G>A	c.(15613-15615)acG>acA	p.T5205T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5207	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						AACTTGTGTCCGTGGGAAAGC	0.463000													36	111					0	0	0.048971	0	0
CCDC114	93233	broad.mit.edu	37	19	48800455	48800455	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:48800455G>A	ENST00000315396.7	-	14	2473	c.1791C>T	c.(1789-1791)ggC>ggT	p.G597G		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	597	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGTCACGTGGCCCCCACTCG	0.647000													13	31					0	0	0.093190	0	0
NLRP5	126206	broad.mit.edu	37	19	56539831	56539831	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56539831C>T	ENST00000390649.3	+	7	2232	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	744						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGGGATCTTCCCAAGAGATG	0.517000													74	135					0	0	0.048971	0	0
KLB	152831	broad.mit.edu	37	4	39409134	39409134	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:39409134C>T	ENST00000257408.4	+	1	662	c.565C>T	c.(565-567)Cct>Tct	p.P189S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	189	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAACATTGAACCTATAGTTAC	0.413000													22	36					0	0	0.062417	0	0
SLIT2	9353	broad.mit.edu	37	4	20620541	20620541	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:20620541G>A	ENST00000504154.1	+	37	4751	c.4499G>A	c.(4498-4500)cGg>cAg	p.R1500Q	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1492Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1513Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1496Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1500	CTCK.				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						AGCAAGCGGCGGAAATACTCT	0.557000													14	34					0	0	0.105934	0	0
PSG4	5672	broad.mit.edu	37	19	43698670	43698670	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:43698670G>A	ENST00000405312.3	-	5	1302	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	PSG4_ENST00000244295.9_Silent_p.F262F|PSG4_ENST00000433626.2_Silent_p.F262F	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	355	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGACTCGGCGAAGCAGGACA	0.453000													68	110					0	0	0.048971	0	0
XIRP2	129446	broad.mit.edu	37	2	168103907	168103907	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168103907G>A	ENST00000409195.1	+	9	6094	c.6005G>A	c.(6004-6006)gGg>gAg	p.G2002E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2002E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1780E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1827					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						CAAACTATGGGGAAATCTTGC	0.453000													22	34					0	0	0.083992	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798422	148798422	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:148798422G>A	ENST00000355220.5	+	5	1378	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	MAGEA11_ENST00000333104.4_Missense_Mutation_p.G397R	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	426						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGAGAGGAGGGAGAGGGAGT	0.537000													25	10					0	0	0.083992	0	0
PCDH19	57526	broad.mit.edu	37	X	99597063	99597063	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:99597063A>G	ENST00000373034.4	-	5	4361	c.2686T>C	c.(2686-2688)Ttc>Ctc	p.F896L	PCDH19_ENST00000420881.2_Missense_Mutation_p.F848L|PCDH19_ENST00000255531.7_Missense_Mutation_p.F849L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	896					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AAGTCCTTGAAGGTGGAGCTG	0.463000													37	5					0	0	0.098360	0	0
DNAH6	1768	broad.mit.edu	37	2	84780102	84780102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:84780102G>A	ENST00000389394.3	+	10	1683	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E516K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E516K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	516	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTTCTCACAGAACTAATGTT	0.403000													26	69					0	0	0.091800	0	0
SLIT3	6586	broad.mit.edu	37	5	168149295	168149295	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:168149295G>A	ENST00000519560.1	-	23	2868	c.2449C>T	c.(2449-2451)Cac>Tac	p.H817Y	SLIT3_ENST00000404867.3_Missense_Mutation_p.H817Y|SLIT3_ENST00000332966.8_Missense_Mutation_p.H817Y	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	817					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAAGGCGTGGACGGGGATG	0.537000													10	25					0	0	0.020292	0	0
NAV3	89795	broad.mit.edu	37	12	78400220	78400220	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:78400220C>T	ENST00000397909.2	+	8	1075	c.902C>T	c.(901-903)tCg>tTg	p.S301L	NAV3_ENST00000266692.7_Missense_Mutation_p.S301L|NAV3_ENST00000228327.6_Missense_Mutation_p.S301L|NAV3_ENST00000536525.2_Missense_Mutation_p.S301L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	301						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGACCTCAATCGTCTTCAGGT	0.458000										HNSCC(70;0.22)			22	50					0	0	0.062417	0	0
AKAP13	11214	broad.mit.edu	37	15	86259047	86259047	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:86259047C>T	ENST00000394518.2	+	20	5723	c.5628C>T	c.(5626-5628)tcC>tcT	p.S1876S	AKAP13_ENST00000361243.2_Silent_p.S1880S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.S121S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1876					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTCCTCGGTCCGCAGTCCTCC	0.527000													22	45					0	0	0.076483	0	0
POU6F2	11281	broad.mit.edu	37	7	39125506	39125506	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:39125506G>A	ENST00000518318.2	+	2	107	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.R22Q|POU6F2_ENST00000464276.2_Missense_Mutation_p.R14Q|POU6F2_ENST00000559001.1_Missense_Mutation_p.R14Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	22					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGTCAGTGCGGAGTGAAATG	0.502000													25	17					0	0	0.037714	0	0
TACR3	6870	broad.mit.edu	37	4	104577406	104577406	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:104577406T>C	ENST00000304883.2	-	3	973	c.833A>G	c.(832-834)gAa>gGa	p.E278G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	278						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCCTGGGATTTCTCCTCCCCA	0.403000													25	77					0	0	0.108266	0	0
ARMC4	55130	broad.mit.edu	37	10	28272896	28272896	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:28272896G>A	ENST00000305242.5	-	6	787	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ARMC4_ENST00000239715.3_Missense_Mutation_p.S89L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	232							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						ACATCCATTTGAAAATTCATA	0.403000													16	32					0	0	0.033300	0	0
MYOF	26509	broad.mit.edu	37	10	95107398	95107398	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:95107398C>T	ENST00000371501.4	-	37	4347	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	MYOF_ENST00000371502.4_Missense_Mutation_p.E1409K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1396K|MYOF_ENST00000359263.4_Missense_Mutation_p.E1409K			Q9NZM1	MYOF_HUMAN	myoferlin	1409					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACGATGTCCTCTTTCCCTGCA	0.522000													15	18					0	0	0.033300	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518359	233518359	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:233518359G>A	ENST00000366624.3	+	10	3274	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	MLK4_ENST00000366622.1_Missense_Mutation_p.E451K	NM_032435.2	NP_115811.2																					TGCTGACGTGGAAGGTCAGAG	0.512000													27	20					0	0	0.030593	0	0
UNK	85451	broad.mit.edu	37	17	73805957	73805957	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:73805957C>G	ENST00000293218.3	+	3	449	c.449C>G	c.(448-450)tCc>tGc	p.S150C	UNK_ENST00000589666.1_Missense_Mutation_p.S74C			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	74							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCGCCGGTCCATCCGCCGT	0.627000													10	35					0	0	0.058154	0	0
TMEM130	222865	broad.mit.edu	37	7	98457810	98457810	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98457810G>A	ENST00000450876.1	-	3	1606	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TMEM130_ENST00000546258.1_Silent_p.F162F|TMEM130_ENST00000339375.4_Silent_p.F181F|TMEM130_ENST00000345589.4_Silent_p.F79F|TMEM130_ENST00000416379.2_Silent_p.F181F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	181						Golgi membrane|integral to membrane		p.F181F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCGTCCCCGAAGTCCCAGC	0.582000													25	23					0	0	0.091800	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635452	6635452	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:6635452G>A	ENST00000333172.6	+	3	1453	c.1260_splice	c.e3+1	p.Q420_splice	TAS1R1_ENST00000328191.4_Splice_Site_p.Q420_splice|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	420					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCCCTGGCAGGTAAGAGAGC	0.612000													6	43					0	0	0.021553	0	0
MORC1	27136	broad.mit.edu	37	3	108719488	108719488	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:108719488C>T	ENST00000232603.5	-	21	2185	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	MORC1_ENST00000483760.1_Missense_Mutation_p.M680I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	701					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTTCCTTTTCATTTCCCAAG	0.363000													17	59					0	0	0.028581	0	0
CADM2	253559	broad.mit.edu	37	3	85961618	85961618	+	Missense_Mutation	SNP	G	G	A	rs145952783	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:85961618G>A	ENST00000383699.3	+	6	1252	c.625G>A	c.(625-627)Gcg>Acg	p.A209T	CADM2_ENST00000407528.2_Missense_Mutation_p.A200T|CADM2_ENST00000405615.2_Missense_Mutation_p.A202T	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	200	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A202T(1)|p.A209T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGATGGAGTGGCGGTCATCTG	0.478000													16	22					0	0	0.024245	0	0
SAMD11	148398	broad.mit.edu	37	1	861336	861336	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:861336C>T	ENST00000342066.3	+	2	98	c.15C>T	c.(13-15)atC>atT	p.I5I	AL645608.1_ENST00000598827.1_Silent_p.R88R	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	5						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCAAGGGGATCCTGCAGGTGC	0.647000													44	49					0	0	0.048971	0	0
SHOX	6473	broad.mit.edu	37	X	591839	591839	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:591839T>A	ENST00000381578.1	+	2	898	c.207T>A	c.(205-207)caT>caA	p.H69Q	SHOX_ENST00000381575.1_Missense_Mutation_p.H69Q|SHOX_ENST00000334060.3_Missense_Mutation_p.H69Q|SHOX_ENST00000554971.1_Missense_Mutation_p.H69Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	69					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCGGTGCATTTGTTCAAGG	0.612000													41	85					0	0	0.042209	0	0
RBL1	5933	broad.mit.edu	37	20	35675514	35675514	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:35675514G>A	ENST00000373664.3	-	12	1613	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	RBL1_ENST00000344359.3_Missense_Mutation_p.P516L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	516	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAAAGTACGAGGTGAGCTATA	0.373000													10	29					0	0	0.105934	0	0
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463000													19	34					0	0	0.049695	0	0
SNRNP40	9410	broad.mit.edu	37	1	31754332	31754332	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:31754332G>A	ENST00000263694.4	-	5	561	c.543C>T	c.(541-543)atC>atT	p.I181I	SNRNP40_ENST00000446633.2_Silent_p.I181I|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	181						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CTTTCTTCCGGATGTCCCAAA	0.423000													6	20					0	0	0.029380	0	0
PDP2	57546	broad.mit.edu	37	16	66919776	66919776	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:66919776A>G	ENST00000311765.2	+	2	1923	c.1589A>G	c.(1588-1590)tAa>tGa	p.*530*	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	0					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAGGGGGGTTAAGAATCTCCC	0.398000													22	33					0	0	0.083992	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685242	125685242	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:125685242G>A	ENST00000371126.1	-	1	1592	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	450										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGCCTGCAGGGAGAGGCCCCC	0.557000													34	7					0	0	0.074837	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680644	37680644	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:37680644G>A	ENST00000532828.2	-	4	462	c.211C>T	c.(211-213)Cct>Tct	p.P71S	ZNF585B_ENST00000527838.1_Missense_Mutation_p.P71S|ZNF585B_ENST00000586320.1_Missense_Mutation_p.P56S|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P16S|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.P71S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGGTTTAGGAACTTGATAC	0.478000													19	37					0	0	0.091800	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688708	26688708	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:26688708G>A	ENST00000529632.2	+	2	627	c.431G>A	c.(430-432)aGg>aAg	p.R144K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.R144K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R144K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R144K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R144K|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	144						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGTCCAAAGGGCAGGGTCC	0.667000													11	21					0	0	0.024245	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558286	140558286	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140558286C>T	ENST00000239444.2	+	1	916	c.671C>T	c.(670-672)tCt>tTt	p.S224F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCCAGATCTGGCACTGCT	0.517000													12	163					0	0	0.105934	0	0
PKHD1	5314	broad.mit.edu	37	6	51890235	51890235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51890235G>A	ENST00000371117.3	-	32	4648	c.4373C>T	c.(4372-4374)tCc>tTc	p.S1458F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1458F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1458	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTTCAGGGAGAAGGAAGC	0.527000													19	10					0	0	0.038395	0	0
MYO5A	4644	broad.mit.edu	37	15	52681552	52681552	+	Silent	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:52681552T>C	ENST00000399231.3	-	13	1794	c.1551A>G	c.(1549-1551)aaA>aaG	p.K517K	MYO5A_ENST00000399233.2_Silent_p.K517K|MYO5A_ENST00000358212.6_Silent_p.K517K|MYO5A_ENST00000356338.6_Silent_p.K517K|MYO5A_ENST00000553916.1_Silent_p.K517K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	517	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATCTGTGCCTTTAGGCATCT	0.353000													16	24					0	0	0.033300	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407231	87407231	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:87407231G>A	ENST00000338056.3	+	9	1378	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E306K|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E306K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	323										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACTGGAGAAGGAACAATTAGA	0.358000													12	54					0	0	0.024245	0	0
MST1R	4486	broad.mit.edu	37	3	49940161	49940161	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:49940161C>T	ENST00000296474.3	-	1	909	c.882G>A	c.(880-882)cgG>cgA	p.R294R	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.R294R	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	294	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGACCAGCTCCCGATAGTCAC	0.652000													44	68					0	0	0.048971	0	0
PKHD1	5314	broad.mit.edu	37	6	51524128	51524128	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51524128T>A	ENST00000371117.3	-	61	11071	c.10796A>T	c.(10795-10797)cAc>cTc	p.H3599L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3599					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGCATCTCGTGAATAAACCT	0.408000													28	12					0	0	0.030593	0	0
COPA	1314	broad.mit.edu	37	1	160280027	160280027	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:160280027G>A	ENST00000241704.7	-	12	1327	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	COPA_ENST00000368069.3_Silent_p.F366F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	366					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)			ATGACATATTGAATACTGGAA	0.413000													85	30					0	0	0.048971	0	0
TMC7	79905	broad.mit.edu	37	16	19020617	19020617	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:19020617G>A	ENST00000304381.5	+	2	321	c.191G>A	c.(190-192)gGa>gAa	p.G64E	TMC7_ENST00000569532.1_Missense_Mutation_p.G64E|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	64						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGCAAAGCGGAACTTTGCTA	0.502000													17	29					0	0	0.028581	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509723	106509723	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:106509723G>A	ENST00000359195.3	+	2	2027	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E573K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E573K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	573					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGAGGACAAAGAATTGCTCTG	0.473000													15	47					0	0	0.020292	0	0
APP	351	broad.mit.edu	37	21	27264135	27264135	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:27264135C>T	ENST00000358918.3	-	16	2255	c.2056G>A	c.(2056-2058)Gga>Aga	p.G686R	APP_ENST00000346798.3_Missense_Mutation_p.G704R|APP_ENST00000440126.3_Missense_Mutation_p.G680R|APP_ENST00000357903.3_Missense_Mutation_p.G685R|APP_ENST00000439274.2_Missense_Mutation_p.G648R|APP_ENST00000348990.5_Missense_Mutation_p.G629R|APP_ENST00000359726.3_Missense_Mutation_p.G648R|APP_ENST00000448388.2_Missense_Mutation_p.G594R|APP_ENST00000354192.3_Missense_Mutation_p.G573R	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	704					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ACCATGAGTCCAATGATTGCA	0.383000													17	24					0	0	0.043863	0	0
DIDO1	11083	broad.mit.edu	37	20	61511969	61511969	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:61511969G>C	ENST00000266070.4	-	16	5664	c.5339C>G	c.(5338-5340)cCg>cGg	p.P1780R	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1780R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1780	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCTGGAAACGGAGGGGCTGG	0.627000													40	82					0	0	0.092188	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886159	30886159	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:30886159G>A	ENST00000540456.1	-	13	1304	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	SEC14L4_ENST00000392772.2_Silent_p.F346F|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Missense_Mutation_p.P386S			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	386	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCCTTGTCGGGAAGCAGCACC	0.587000													17	32					0	0	0.038395	0	0
SLC38A10	124565	broad.mit.edu	37	17	79254472	79254472	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:79254472T>C	ENST00000374759.3	-	6	946	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.Y188C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	188					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGCGGACGTAGCTGACCCG	0.637000													18	15					0	0	0.038395	0	0
OR4C16	219428	broad.mit.edu	37	11	55339891	55339891	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:55339891G>A	ENST00000314634.3	+	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCGAGTGCATGATCCAAGTCT	0.468000													72	126					0	0	0.048971	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397095	57397095	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:57397095G>A	ENST00000300101.2	-	2	1692	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGGAAGAGGGCGTCTTCCAG	0.552000													6	14					0	0	0.029380	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402384	47402384	+	Silent	SNP	G	G	A	rs9333005	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47402384G>A	ENST00000310638.4	-	4	493	c.462C>T	c.(460-462)atC>atT	p.I154I	CYP4A11_ENST00000457840.2_Silent_p.I50I|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.I154I|CYP4A11_ENST00000371905.1_Silent_p.I154I	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	154					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGGCTTCAGGATGTCATAGT	0.547000													40	35					0	0	0.098360	0	0
CDK15	65061	broad.mit.edu	37	2	202687611	202687611	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:202687611C>T	ENST00000450471.2	+	5	614	c.528C>T	c.(526-528)ttC>ttT	p.F176F	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Silent_p.F125F|CDK15_ENST00000374598.4_Silent_p.F176F|CDK15_ENST00000434439.1_Silent_p.F176F|CDK15_ENST00000410091.3_Silent_p.F125F	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	176	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACTGACATTCGTTTTTGAAT	0.343000													45	66					0	0	0.048971	0	0
MTMR12	54545	broad.mit.edu	37	5	32312901	32312901	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:32312901G>A	ENST00000382142.3	-	1	214	c.44C>T	c.(43-45)gCc>gTc	p.A15V	MTMR12_ENST00000264934.5_Missense_Mutation_p.A15V|MTMR12_ENST00000280285.5_Missense_Mutation_p.A15V	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	15						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGGCTTGGGGGCCTTGGTGCC	0.771000													18	43					0	0	0.069288	0	0
IQCF3	401067	broad.mit.edu	37	3	51864773	51864773	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:51864773C>T	ENST00000456080.1	+	8	1586	c.421C>T	c.(421-423)Cct>Tct	p.P141S	IQCF3_ENST00000437810.2_Missense_Mutation_p.P141S|IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000440739.2_Missense_Mutation_p.P141S|IQCF3_ENST00000446775.1_Missense_Mutation_p.P141S			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	141										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATATGCAATCCCTTCAAAGCA	0.483000													23	36					0	0	0.069288	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999824	72999824	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72999824T>G	ENST00000322038.5	+	2	2911	c.2327T>G	c.(2326-2328)gTg>gGg	p.V776G	TSHZ1_ENST00000580243.1_Missense_Mutation_p.V821G	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	821						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCCGCTGGTGTCCAGCGTG	0.582000													20	35					0	0	0.076483	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96070152	96070152	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:96070152G>A	ENST00000396113.1	+	15	1763	c.713G>A	c.(712-714)aGa>aAa	p.R238K	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.R278K|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.R238K|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.R330K			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	330					biosynthetic process	mitochondrion	transferase activity										CAGTCATGGAGAAAAACATAT	0.279000													93	117					0	0	0.048971	0	0
FANCD2	2177	broad.mit.edu	37	3	10106090	10106090	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:10106090G>A	ENST00000287647.3	+	22	2091	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	FANCD2_ENST00000383807.1_Silent_p.V666V|FANCD2_ENST00000383806.1_Silent_p.V666V|FANCD2_ENST00000419585.1_Silent_p.V666V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	666					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTTCGTAGTGGACTCCTGTG	0.453000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	200					0	0	0.048971	0	0
COL6A6	131873	broad.mit.edu	37	3	130292971	130292971	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:130292971C>T	ENST00000358511.6	+	7	3180	c.3149C>T	c.(3148-3150)cCg>cTg	p.P1050L	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1050L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1050	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.P1050Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCTATCACCCGGAGTTTCCA	0.433000													12	28					0	0	0.080935	0	0
SHROOM2	357	broad.mit.edu	37	X	9905572	9905572	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:9905572C>T	ENST00000380913.3	+	7	4076	c.3986C>T	c.(3985-3987)tCc>tTc	p.S1329F	SHROOM2_ENST00000418909.2_Missense_Mutation_p.S164F	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1329	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGGATAAGTCCCTGGCCGAC	0.557000													27	9					0	0	0.030593	0	0
ASTN2	23245	broad.mit.edu	37	9	119568061	119568061	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:119568061G>A	ENST00000313400.4	-	13	2346	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.S745F|ASTN2_ENST00000361209.2_Missense_Mutation_p.S698F			O75129	ASTN2_HUMAN	astrotactin 2	749	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATTAAGCAGGATTTTCCATC	0.478000													43	91					0	0	0.048971	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091221	143091221	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:143091221G>A	ENST00000367603.2	-	5	5397	c.4655C>T	c.(4654-4656)cCg>cTg	p.P1552L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1552L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1552L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1552	Ser-rich.				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)		CTTCTGCCCCGGAAGTGGTGC	0.537000													23	10					0	0	0.099896	0	0
C17orf47	284083	broad.mit.edu	37	17	56620779	56620779	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:56620779G>A	ENST00000321691.3	-	1	950	c.769C>T	c.(769-771)Cct>Tct	p.P257S	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	257										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTTTTGAAGGAATTGGACCG	0.473000													56	64					0	0	0.048971	0	0
WDR45	11152	broad.mit.edu	37	X	48934105	48934105	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:48934105G>A	ENST00000356463.3	-	7	861	c.423C>T	c.(421-423)acC>acT	p.T141T	WDR45_ENST00000376372.3_Silent_p.T140T|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Silent_p.T141T|WDR45_ENST00000322995.8_Silent_p.T140T|WDR45_ENST00000473974.1_Silent_p.T140T|WDR45_ENST00000485908.1_Silent_p.T105T|WDR45_ENST00000396681.4_Silent_p.T140T|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Intron	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	140					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTTGTCCCGGGTATCAAACT	0.532000													40	16					0	0	0.045515	0	0
SHROOM2	357	broad.mit.edu	37	X	9914760	9914760	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:9914760C>T	ENST00000380913.3	+	10	4724	c.4634C>T	c.(4633-4635)gCc>gTc	p.A1545V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.A380V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1545	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACGAGGACGCCAAGGAGCTC	0.557000													3	2					0	0	0.004672	0	0
DUOXA2	405753	broad.mit.edu	37	15	45410043	45410043	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:45410043T>G	ENST00000323030.5	+	6	1184	c.899T>G	c.(898-900)cTc>cGc	p.L300R	DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	300					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTCTTATCCTCGGCGACCCA	0.597000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	70					0	0	0.086207	0	0
DUSP22	56940	broad.mit.edu	37	6	311939	311939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:311939G>A	ENST00000419235.2	+	3	193	c.115G>A	c.(115-117)Gat>Aat	p.D39N	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.D39N			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	39					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTCTGTCCACGATAGTGCCAG	0.493000													10	58					0	0	0.080935	0	0
TMTC2	160335	broad.mit.edu	37	12	83289650	83289650	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:83289650C>T	ENST00000549919.1	+	4	2495	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TMTC2_ENST00000321196.3_Silent_p.S236S|TMTC2_ENST00000548305.1_Silent_p.S236S			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	236						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCTGGGGTTCCTCCCTTTTGG	0.453000													49	67					0	0	0.048971	0	0
BRD7	29117	broad.mit.edu	37	16	50368640	50368640	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:50368640G>A	ENST00000394688.3	-	7	1028	c.869C>T	c.(868-870)cCc>cTc	p.P290L	BRD7_ENST00000394689.2_Missense_Mutation_p.P290L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	290					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTTTGCTGGGACTCTTGAA	0.473000													56	109					0	0	0.048971	0	0
ICAM4	3386	broad.mit.edu	37	19	10398497	10398497	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:10398497C>T	ENST00000393717.2	+	2	689	c.680C>T	c.(679-681)cCc>cTc	p.P227L	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Silent_p.T201T|ICAM4_ENST00000380770.3_Missense_Mutation_p.P227L	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	227					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCTCGGCACCCATTACACTG	0.632000													21	57					0	0	0.069288	0	0
KLHL2	11275	broad.mit.edu	37	4	166226792	166226792	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:166226792G>A	ENST00000226725.6	+	9	1213	c.954G>A	c.(952-954)aaG>aaA	p.K318K	KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Silent_p.K152K|KLHL2_ENST00000421009.2_Silent_p.K221K|KLHL2_ENST00000538127.1_Silent_p.K230K|KLHL2_ENST00000514860.1_Silent_p.K322K	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	318					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAGCACCAAAGGCTATCCGGA	0.458000													42	95					0	0	0.104719	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764612	140764612	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140764612C>T	ENST00000518325.1	+	1	2146	c.2146C>T	c.(2146-2148)Ctg>Ttg	p.L716L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTCAGGCTGCGGCGCTG	0.622000													9	31					0	0	0.058154	0	0
NAGLU	4669	broad.mit.edu	37	17	40695668	40695668	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:40695668C>T	ENST00000225927.2	+	6	1745	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	548						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CATCTGCTCCCTCCCTGGCCA	0.622000													8	16					0	0	0.069234	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427419	27427419	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27427419G>A	ENST00000310574.3	-	9	1388	c.915C>T	c.(913-915)ctC>ctT	p.L305L	SLC5A6_ENST00000408041.1_Silent_p.L305L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	305					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGCCCACGCAGAGGGACACCT	0.587000													17	65					0	0	0.033300	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795746	69795746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:69795746G>A	ENST00000251566.4	-	6	1399	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.R168*	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGACTGCTCGATCTAGGGGC	0.448000													29	40					0	0	0.054565	0	0
PCCA	5095	broad.mit.edu	37	13	101182352	101182352	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:101182352G>A	ENST00000376285.1	+	24	2157	c.2118_splice	c.e24-1	p.V707_splice	PCCA_ENST00000376279.3_Splice_Site_p.V660_splice|PCCA_ENST00000376286.4_Splice_Site_p.V681_splice	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	707	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAATTCAAGGTGAAATCTGT	0.453000													9	26					0	0	0.069234	0	0
TRHR	7201	broad.mit.edu	37	8	110099909	110099909	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110099909G>A	ENST00000518632.1	+	2	519	c.168G>A	c.(166-168)atG>atA	p.M56I	TRHR_ENST00000311762.2_Missense_Mutation_p.M56I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	56						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAAGCACATGAGGACCCCCA	0.507000													60	50					0	0	0.048971	0	0
TDRD10	126668	broad.mit.edu	37	1	154515250	154515250	+	Silent	SNP	G	G	A	rs141912752		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:154515250G>A	ENST00000368482.4	+	8	1294	c.456G>A	c.(454-456)gaG>gaA	p.E152E	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.E152E	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	152							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTGTGTGAGACAGAGAAAC	0.493000													18	25					0	0	0.062417	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929110	31929110	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31929110C>T	ENST00000375394.2	+	8	849	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SKIV2L_ENST00000544581.1_Missense_Mutation_p.P53S|SKIV2L_ENST00000488648.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	246						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTCAGCCTCTCCCTGCAGTGC	0.582000													168	270					0	0	0.048971	0	0
OR5K4	403278	broad.mit.edu	37	3	98072976	98072976	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:98072976C>T	ENST00000354924.2	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAATTATTTCCCTGTATGAAT	0.433000													71	153					0	0	0.048971	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118364911	118364911	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:118364911C>T	ENST00000528052.1	+	12	1257	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P396S|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P396S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	396	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATTCTCAAACCAGGCTCAAC	0.393000													19	63					0	0	0.062417	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815508	179815508	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:179815508G>A	ENST00000367612.3	-	6	1498	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	371						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGCCGGCAGGGAAGGATTCG	0.507000													21	29					0	0	0.049695	0	0
SP140	11262	broad.mit.edu	37	2	231152654	231152654	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:231152654G>A	ENST00000392045.3	+	18	1807	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SP140_ENST00000420434.3_Missense_Mutation_p.A538T|SP140_ENST00000486687.2_Missense_Mutation_p.A489T|SP140_ENST00000417495.3_Missense_Mutation_p.A451T|SP140_ENST00000350136.5_Missense_Mutation_p.A434T|SP140_ENST00000343805.6_Missense_Mutation_p.A505T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	565					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGTGACAGAGCTGCACAGAA	0.398000													11	20					0	0	0.080935	0	0
MFSD4	148808	broad.mit.edu	37	1	205554120	205554120	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:205554120G>A	ENST00000367147.4	+	5	1068		c.e5+1		MFSD4_ENST00000539267.1_Splice_Site|MFSD4_ENST00000536357.1_Splice_Site	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4						transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGGGTTGACGGTGAGCCTGCC	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	47					0	0	0.055883	0	0
TAL1	6886	broad.mit.edu	37	1	47691530	47691530	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:47691530G>T	ENST00000371883.3	-	2	607	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	TAL1_ENST00000294339.3_Missense_Mutation_p.R11S|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371884.2_Missense_Mutation_p.R11S			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	11					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGTCACTGCGAGCCGCCTCG	0.726000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								27	21					1.2476e-16	1.26923e-16	0.030593	1	0
SEC14L5	9717	broad.mit.edu	37	16	5057485	5057485	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:5057485G>A	ENST00000251170.7	+	13	1750	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	524	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGCCCCCCACGAGGTGCCAGG	0.607000													15	19					0	0	0.028581	0	0
KMT2B	9757	broad.mit.edu	37	19	36220893	36220893	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36220893G>A	ENST00000222270.7	+	23	4943	c.4943G>A	c.(4942-4944)gGc>gAc	p.G1648D	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G1648D	NM_014727.1	NP_055542.1																					CTGAAGCCTGGCGCCACGGTG	0.642000													11	21					0	0	0.105934	0	0
OR6C76	390326	broad.mit.edu	37	12	55820744	55820744	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:55820744C>T	ENST00000328314.3	+	1	707	c.707C>T	c.(706-708)tCa>tTa	p.S236L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAAGCCTTTTCAACCTGCTCC	0.373000													12	26					0	0	0.105934	0	0
XRN1	54464	broad.mit.edu	37	3	142037515	142037515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:142037515G>A	ENST00000264951.4	-	39	4654	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	XRN1_ENST00000392981.2_Missense_Mutation_p.P1514S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1513					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAGGCAAAGGGAAATTCATG	0.373000													12	27					0	0	0.105934	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633927	6633927	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:6633927C>T	ENST00000274192.5	+	1	472	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	SRD5A1_ENST00000538824.1_Silent_p.S88S|SRD5A1_ENST00000537411.1_Silent_p.S88S|SRD5A1_ENST00000504286.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	80					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCGCGTCTCCGCAGCGCGCC	0.741000													11	28					0	0	0.080935	0	0
MON2	23041	broad.mit.edu	37	12	62931023	62931023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:62931023C>T	ENST00000393630.3	+	15	2384	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*	MON2_ENST00000393632.2_Nonsense_Mutation_p.Q665*|MON2_ENST00000546600.1_Nonsense_Mutation_p.Q665*|MON2_ENST00000552115.1_Nonsense_Mutation_p.Q665*|MON2_ENST00000280379.6_Nonsense_Mutation_p.Q665*|MON2_ENST00000393629.2_Nonsense_Mutation_p.Q665*|MON2_ENST00000552738.1_Nonsense_Mutation_p.Q642*	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	665					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTAGCAGTCCAGCCTCAAGG	0.398000													16	25					0	0	0.043863	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23443566	23443566	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:23443566C>T	ENST00000526079.1	+	0	1641					NR_027407.1|NR_033350.1																						CATGGCTCTCCCTGGGGAAGG	0.597000													11	5					0	0	0.080935	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8841889C>T	ENST00000324060.2	+	1	574	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000													50	74					0	0	0.048971	0	0
ANK2	287	broad.mit.edu	37	4	114284612	114284612	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:114284612G>A	ENST00000357077.4	+	40	10928	c.10875G>A	c.(10873-10875)ggG>ggA	p.G3625G	ANK2_ENST00000509550.1_Silent_p.G716G|ANK2_ENST00000264366.6_Silent_p.G3592G|ANK2_ENST00000506722.1_Silent_p.G1531G|ANK2_ENST00000510275.2_Silent_p.G192G|ANK2_ENST00000394537.3_Silent_p.G1540G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3592					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGGGATGGGAAACATGCTA	0.408000													25	34					0	0	0.041601	0	0
ACBD4	79777	broad.mit.edu	37	17	43214795	43214795	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43214795C>T	ENST00000431281.1	+	8	945	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ACBD4_ENST00000592162.1_Missense_Mutation_p.P159L|ACBD4_ENST00000586346.1_Missense_Mutation_p.P159L|ACBD4_ENST00000398322.3_Missense_Mutation_p.P159L|ACBD4_ENST00000376955.4_Missense_Mutation_p.P159L|ACBD4_ENST00000321854.8_Missense_Mutation_p.P159L|ACBD4_ENST00000591859.1_Missense_Mutation_p.P159L|ACBD4_ENST00000591136.1_3'UTR	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	159							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCTGCCTCCCCAAGGAACCG	0.627000													12	21					0	0	0.020292	0	0
OR6B3	150681	broad.mit.edu	37	2	240984523	240984523	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:240984523G>T	ENST00000319423.4	-	1	966	c.967C>A	c.(967-969)Cat>Aat	p.H323N		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATTTGGAGATGAAGTTCCAGA	0.418000													61	90					1.7104e-27	1.7451e-27	0.048971	1	0
XKR3	150165	broad.mit.edu	37	22	17288658	17288658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:17288658C>T	ENST00000331428.5	-	2	408	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	102						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAGAATGTGCCAAAAAAGTA	0.338000													15	32					0	0	0.033300	0	0
OR2W3	343171	broad.mit.edu	37	1	248059693	248059693	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248059693G>A	ENST00000537741.1	+	3	1062	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OR2W3_ENST00000360358.3_Missense_Mutation_p.D269N			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTTCCCAGGACCAGGGCAT	0.542000													24	73					0	0	0.030593	0	0
OR8D2	283160	broad.mit.edu	37	11	124189289	124189289	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:124189289C>T	ENST00000357438.2	-	1	895	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		TTCTCTTTTTCCATAGTAGTG	0.428000													66	98					0	0	0.048971	0	0
SORCS2	57537	broad.mit.edu	37	4	7684478	7684478	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:7684478G>A	ENST00000507866.2	+	10	1459	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	SORCS2_ENST00000329016.9_Silent_p.G278G	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	450						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGTCAGAGGGGTGAAAGGAG	0.483000													7	12					0	0	0.038147	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:13418659G>A	ENST00000360228.5	-	15	1922	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_ENST00000573710.2_Silent_p.F642F	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	642					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)	TCCCTTCATCGAAATTAAACC	0.547000													38	51					0	0	0.042209	0	0
PKHD1	5314	broad.mit.edu	37	6	51524127	51524127	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51524127G>A	ENST00000371117.3	-	61	11072	c.10797C>T	c.(10795-10797)caC>caT	p.H3599H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3599					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGCATCTCGTGAATAAACC	0.408000													29	12					0	0	0.034045	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162443	33162443	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:33162443G>A	ENST00000510327.1	-	0	346																											GAAGTAACAAGAAATACCGTG	0.532000													4	17					0	0	0.009096	0	0
ITGAX	3687	broad.mit.edu	37	16	31391335	31391335	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:31391335C>T	ENST00000268296.4	+	26	3130	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_ENST00000562522.1_Silent_p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1003					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577000													18	30					0	0	0.049695	0	0
C8B	732	broad.mit.edu	37	1	57422559	57422559	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:57422559G>A	ENST00000543257.1	-	4	684	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	C8B_ENST00000371237.4_Missense_Mutation_p.P92S|C8B_ENST00000535057.1_Missense_Mutation_p.P30S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	92					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P92S(1)		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						AACTGAGAGGGCTGGAGCAAG	0.507000													71	72					0	0	0.048971	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635453	6635453	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:6635453G>A	ENST00000333172.6	+	3	1453		c.e3+1		TAS1R1_ENST00000328191.4_Splice_Site|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1						sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCCCTGGCAGGTAAGAGAGCC	0.612000													6	44					0	0	0.021553	0	0
UNK	85451	broad.mit.edu	37	17	73805958	73805958	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:73805958C>T	ENST00000293218.3	+	3	450	c.450C>T	c.(448-450)tcC>tcT	p.S150S	UNK_ENST00000589666.1_Silent_p.S74S			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	74							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGCCGGTCCATCCGCCGTC	0.622000													10	35					0	0	0.058154	0	0
MARCH7	64844	broad.mit.edu	37	2	160605065	160605065	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:160605065C>T	ENST00000259050.3	+	5	1386	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	MARCH7_ENST00000409175.1_Missense_Mutation_p.H422Y|MARCH7_ENST00000539065.1_Missense_Mutation_p.H366Y|MARCH7_ENST00000409591.1_Missense_Mutation_p.H384Y	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	422							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATCTAGATCTCATATTTTTAG	0.428000													18	27					0	0	0.033300	0	0
HHIP	64399	broad.mit.edu	37	4	145580038	145580038	+	Missense_Mutation	SNP	G	G	A	rs149139999		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:145580038G>A	ENST00000296575.3	+	3	1224	c.569G>A	c.(568-570)gGa>gAa	p.G190E	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.G190E|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	190						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAAGTCAGAGGACCAGCATCT	0.368000													29	46					0	0	0.041601	0	0
CR2	1380	broad.mit.edu	37	1	207646192	207646192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207646192G>A	ENST00000458541.2	+	9	1623	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	CR2_ENST00000367059.3_Missense_Mutation_p.G549E|CR2_ENST00000367057.3_Missense_Mutation_p.G549E|CR2_ENST00000367058.3_Missense_Mutation_p.G549E			P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	534	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTTCCATATGGAACCACGGTC	0.473000													17	40					0	0	0.038395	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921582	130921582	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:130921582C>T	ENST00000261655.4	-	10	2023	c.1860G>A	c.(1858-1860)agG>agA	p.R620R	RIMBP2_ENST00000535703.1_Silent_p.R528R|RIMBP2_ENST00000536002.1_Silent_p.R528R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	620	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTCATCCATCCTGGCGTGGG	0.667000													15	18					0	0	0.024245	0	0
PRKDC	5591	broad.mit.edu	37	8	48749885	48749885	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:48749885A>G	ENST00000314191.2	-	58	7702	c.7646T>C	c.(7645-7647)aTa>aCa	p.I2549T	PRKDC_ENST00000338368.3_Missense_Mutation_p.I2549T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2550	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTGCACTTCTATCTTAGGAGA	0.393000								Non-homologous end-joining					11	22					0	0	0.069234	0	0
RIPK4	54101	broad.mit.edu	37	21	43176851	43176851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:43176851G>A	ENST00000352483.2	-	2	372	c.308C>T	c.(307-309)tCc>tTc	p.S103F	RIPK4_ENST00000544709.1_Missense_Mutation_p.S40F|RIPK4_ENST00000542057.1_Missense_Mutation_p.S40F|RIPK4_ENST00000332512.3_Missense_Mutation_p.S103F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.S103F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTTCCAGGGAGCCCGTCTC	0.587000													25	36					0	0	0.030593	0	0
BCAS4	55653	broad.mit.edu	37	20	49446846	49446846	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:49446846G>A	ENST00000358791.5	+	3	383	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	BCAS4_ENST00000371608.2_Missense_Mutation_p.E95K|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.E95K	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	95						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GATCCTGGAGGAAAACATCCC	0.517000													12	31					0	0	0.105934	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928311	31928311	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31928311C>T	ENST00000375394.2	+	5	570	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SKIV2L_ENST00000544581.1_Intron|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	153						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AACTCAGTATCCCTTCTGGCC	0.542000													147	271					0	0	0.048971	0	0
HPS3	84343	broad.mit.edu	37	3	148877926	148877926	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:148877926C>T	ENST00000296051.2	+	11	2106	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	HPS3_ENST00000460120.1_Missense_Mutation_p.P491S	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	656						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATATTAATCCTTTAACTGC	0.423000									Hermansky-Pudlak syndrome				35	53					0	0	0.059317	0	0
C1QA	712	broad.mit.edu	37	1	22965376	22965376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:22965376G>A	ENST00000374642.3	+	3	418	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	C1QA_ENST00000402322.1_Missense_Mutation_p.E72K	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	72	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	AGACCAGGGGGAACCTGGGCC	0.642000													11	9					0	0	0.080935	0	0
TCTN3	26123	broad.mit.edu	37	10	97442431	97442431	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:97442431G>A	ENST00000265993.8	-	12	1672	c.1429C>T	c.(1429-1431)Ctc>Ttc	p.L477F	TCTN3_ENST00000430368.1_Missense_Mutation_p.L329F|TCTN3_ENST00000371217.4_Missense_Mutation_p.L490F	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	477					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TGCCTGTTGAGGATCCTGGTC	0.438000													57	90					0	0	0.048971	0	0
KDM3B	51780	broad.mit.edu	37	5	137727228	137727228	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:137727228C>T	ENST00000314358.5	+	8	2107	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.P292L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTTCTAATCCTTTCCTGGCA	0.493000													13	60					0	0	0.024245	0	0
LRP1B	53353	broad.mit.edu	37	2	141460033	141460033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:141460033C>T	ENST00000389484.3	-	38	7084	c.6113G>A	c.(6112-6114)gGa>gAa	p.G2038E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2038					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATGCTATTCCCATGCTTAC	0.423000										TSP Lung(27;0.18)			29	40					0	0	0.037714	0	0
EXTL3	2137	broad.mit.edu	37	8	28575056	28575056	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:28575056C>T	ENST00000220562.4	+	3	2382	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.H110Y	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	494						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TACCGAGGTTCATTTCCTGCT	0.587000													18	45					0	0	0.049695	0	0
PRKCI	5584	broad.mit.edu	37	3	170009647	170009647	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:170009647A>G	ENST00000295797.4	+	13	1514	c.1209A>G	c.(1207-1209)ggA>ggG	p.G403G		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	403	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAGGAAGGATTACGGCCAG	0.328000													14	13					0	0	0.033300	0	0
XIRP2	129446	broad.mit.edu	37	2	168098367	168098367	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168098367G>A	ENST00000409195.1	+	8	1212	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E375K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E375K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E375K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E408K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E153K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E408K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E153K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	200					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						GTCTGCCCAGGAAAAGATCCT	0.383000													44	88					0	0	0.048971	0	0
SERPINA11	256394	broad.mit.edu	37	14	94908971	94908971	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94908971C>T	ENST00000334708.3	-	5	1305	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	414					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACAACTTTTCCCAGGAAGAG	0.537000													5	2					0	0	0.029380	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756408	129756408	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:129756408C>T	ENST00000335420.5	+	3	511	c.377C>T	c.(376-378)cCt>cTt	p.P126L	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	126										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GAAGACTATCCTCTCTTCAGG	0.468000													33	114					0	0	0.050027	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605035	140605035	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140605035C>T	ENST00000239449.4	+	1	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S500L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTCGCTCGGCCACCGCC	0.721000													10	56					0	0	0.093190	0	0
MYLK	4638	broad.mit.edu	37	3	123451887	123451887	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:123451887C>T	ENST00000360772.3	-	12	1750	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MYLK_ENST00000359169.1_Missense_Mutation_p.E458K|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.E458K|MYLK_ENST00000360304.3_Missense_Mutation_p.E458K			Q15746	MYLK_HUMAN	myosin light chain kinase	458	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTGCCTTCCTGTCTCCTC	0.567000													21	20					0	0	0.062417	0	0
GAB4	128954	broad.mit.edu	37	22	17447143	17447143	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:17447143A>G	ENST00000400588.1	-	6	1242	c.1135T>C	c.(1135-1137)Tcc>Ccc	p.S379P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	379										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACACCCTGGGAATCATCGCCT	0.592000													15	20					0	0	0.020292	0	0
SPATA18	132671	broad.mit.edu	37	4	52927009	52927009	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:52927009C>T	ENST00000295213.4	+	3	629	c.255C>T	c.(253-255)tcC>tcT	p.S85S	SPATA18_ENST00000419395.2_Silent_p.S85S|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	85					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGAGGCTTCCTTTACTGCTG	0.478000													14	41					0	0	0.024245	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945791	45945791	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:45945791C>T	ENST00000531526.1	+	4	566	c.455C>T	c.(454-456)gCt>gTt	p.A152V	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A152V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A121V|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A152V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A121V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	152					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGGTGCCTGCTGTCCGTGTC	0.597000													25	51					0	0	0.099896	0	0
MED16	10025	broad.mit.edu	37	19	880116	880116	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:880116G>A	ENST00000312090.6	-	8	1324	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	MED16_ENST00000395808.3_Missense_Mutation_p.H392Y|MED16_ENST00000325464.1_Missense_Mutation_p.H392Y|MED16_ENST00000589119.1_Missense_Mutation_p.H392Y|MED16_ENST00000269814.4_Missense_Mutation_p.H392Y|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	392					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGATGTGGACGCTGCCG	0.716000													13	13					0	0	0.105934	0	0
PDE1C	5137	broad.mit.edu	37	7	32209506	32209506	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:32209506C>T	ENST00000396193.1	-	3	792	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTTGGCTTCTCCTTGACATTC	0.517000													46	132					0	0	0.048971	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426749	26426749	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26426749C>T	ENST00000466808.2	+	0	1065																											ATTTTTATTCCAGGTTAGTTC	0.522000													26	42					0	0	0.030593	0	0
OR1M1	125963	broad.mit.edu	37	19	9204006	9204006	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9204006C>T	ENST00000429566.3	+	1	152	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCTCTTTTCCCTGTTCTTC	0.517000													23	39					0	0	0.062417	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371962	34371962	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:34371962G>A	ENST00000297625.7	-	2	1103	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	327					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGTCCACGGCGCGCCCGTA	0.587000													17	46					0	0	0.028581	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881544	33881544	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:33881544G>A	ENST00000504830.1	-	2	504	c.169C>T	c.(169-171)Cca>Tca	p.P57S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P57S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P57S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTCGGACTGGACCCACCACG	0.488000										HNSCC(64;0.19)			48	96					0	0	0.048971	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010418	24010418	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:24010418C>T	ENST00000496398.1	+	4	878	c.455C>T	c.(454-456)tCt>tTt	p.S152F	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.S152F|RP11-255H23.4_ENST00000599944.1_lincRNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						AACACAGATTCTCCTCTGCGC	0.542000													16	34					0	0	0.083992	0	0
NCOR2	9612	broad.mit.edu	37	12	124821308	124821308	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:124821308G>A	ENST00000356219.3	-	39	6282	c.6127C>T	c.(6127-6129)Cgt>Tgt	p.R2043C	NCOR2_ENST00000429285.2_Missense_Mutation_p.R2026C|NCOR2_ENST00000404621.1_Missense_Mutation_p.R2026C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1597C|NCOR2_ENST00000397355.1_Missense_Mutation_p.R2027C|NCOR2_ENST00000405201.1_Missense_Mutation_p.R2036C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2047					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCAGAGAACGGAGTTCCAGT	0.602000													17	60					0	0	0.069288	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685509	128685509	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:128685509G>A	ENST00000281154.4	+	3	640	c.472G>A	c.(472-474)Gga>Aga	p.G158R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	158					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGTCGATATTGGAAAAGGTAT	0.383000													22	43					0	0	0.108266	0	0
GLB1	2720	broad.mit.edu	37	3	33055744	33055744	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:33055744G>A	ENST00000307363.5	-	15	1682	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L	GLB1_ENST00000399402.3_Missense_Mutation_p.P483L|GLB1_ENST00000307377.8_Missense_Mutation_p.P382L|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.P561L	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	513					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGTGTCCAGTGGAAAGATCGT	0.562000													17	26					0	0	0.028581	0	0
BRD4	23476	broad.mit.edu	37	19	15375303	15375303	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15375303G>A	ENST00000263377.2	-	6	1345	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	BRD4_ENST00000371835.4_Missense_Mutation_p.P375L|BRD4_ENST00000360016.5_Missense_Mutation_p.P375L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	375	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTGTAGAAGGGCCAGGCGTA	0.577000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	49					0	0	0.062417	0	0
PCM1	5108	broad.mit.edu	37	8	17823906	17823906	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:17823906C>T	ENST00000325083.8	+	20	3584	c.3145C>T	c.(3145-3147)Cct>Tct	p.P1049S	PCM1_ENST00000519253.1_Missense_Mutation_p.P1049S|PCM1_ENST00000524226.1_Missense_Mutation_p.P1050S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1049					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTTGCATCTCCTCAAGTACA	0.383000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								29	67					0	0	0.045705	0	0
TNMD	64102	broad.mit.edu	37	X	99849347	99849347	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:99849347G>A	ENST00000373031.4	+	4	628	c.411G>A	c.(409-411)gaG>gaA	p.E137E	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	137	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AACCAGAAGAGGAAATAGATG	0.343000													16	3					0	0	0.043863	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543356	182543356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:182543356C>T	ENST00000295108.3	-	2	689	c.232G>A	c.(232-234)Gat>Aat	p.D78N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	78					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGCTTTTGATCGTCAtcctcc	0.547000													127	317					0	0	0.048971	0	0
AADACL4	343066	broad.mit.edu	37	1	12704715	12704715	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:12704715C>T	ENST00000376221.1	+	1	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	50						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTGCATATTCCTCTACCTGG	0.507000													41	117					0	0	0.111260	0	0
C4orf17	84103	broad.mit.edu	37	4	100461583	100461583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:100461583G>A	ENST00000514652.1	+	8	1205	c.851G>A	c.(850-852)gGa>gAa	p.G284E	C4orf17_ENST00000326581.4_Missense_Mutation_p.G284E			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	284										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)		TCAAGTCAAGGATCTGAAGAA	0.333000													27	56					0	0	0.059317	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483584	45483584	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:45483584T>C	ENST00000291574.4	+	7	1131	c.956T>C	c.(955-957)cTc>cCc	p.L319P		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	319					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACCTTGCTGCTCTTCCTGCAG	0.572000													32	55					0	0	0.041601	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541150	133541150	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:133541150C>T	ENST00000409261.1	-	14	3607	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1078I|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1078							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAGGACGTCATTTCCAGTG	0.507000													76	168					0	0	0.048971	0	0
HECTD4	283450	broad.mit.edu	37	12	112608218	112608218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:112608218G>A	ENST00000550722.1	-	69	11928	c.11533C>T	c.(11533-11535)Cga>Tga	p.R3845*	HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R3569*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R3819*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTCAGCACTCGATTCATCACG	0.597000													21	36					0	0	0.055883	0	0
LILRA2	11027	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	G	A	rs141931276		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:55086445G>A	ENST00000251377.3	+	5	733	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA2_ENST00000251376.3_Silent_p.S200S|LILRA2_ENST00000391737.1_Silent_p.S188S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S200S|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTTATGACTCGAACTCTCCCT	0.577000													54	85					0	0	0.048971	0	0
LPAR1	1902	broad.mit.edu	37	9	113704254	113704254	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:113704254G>A	ENST00000374431.3	-	4	623	c.240C>T	c.(238-240)ttC>ttT	p.F80F	LPAR1_ENST00000358883.4_Silent_p.F80F|LPAR1_ENST00000538760.1_Silent_p.F81F|LPAR1_ENST00000541779.1_Silent_p.F81F|LPAR1_ENST00000374430.2_Silent_p.F80F	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	80					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAGGAAAATGGAAGCGGCGGT	0.458000													37	62					0	0	0.059317	0	0
ZNF595	152687	broad.mit.edu	37	4	59339	59339	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:59339G>A	ENST00000509152.2	+	2	205	c.20G>A	c.(19-21)aGg>aAg	p.R7K	ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTAACATTCAGGGATGTGGCC	0.418000													15	292					0	0	0.038395	0	0
CAPN12	147968	broad.mit.edu	37	19	39228260	39228260	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:39228260G>A	ENST00000328867.4	-	9	1292	c.984C>T	c.(982-984)ttC>ttT	p.F328F	CAPN12_ENST00000601953.1_Silent_p.F179F	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	328	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AATGGAGGAGGAAGTCCCGCA	0.677000													9	11					0	0	0.069234	0	0
DMP1	1758	broad.mit.edu	37	4	88583725	88583725	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88583725G>A	ENST00000339673.6	+	6	894	c.795G>A	c.(793-795)agG>agA	p.R265R	DMP1_ENST00000282479.7_Silent_p.R249R|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	265					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATCCCAGTAGGAAAATTTTTA	0.433000													10	18					0	0	0.069234	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:237947421G>A	ENST00000366574.2	+	90	12726	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4143K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4121K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4137					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	p.E4135K(1)		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)			GGGCCGCATCGAAATCATGGG	0.512000													81	15					0	0	0.048971	0	0
ANO4	121601	broad.mit.edu	37	12	101491710	101491710	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:101491710G>A	ENST00000392979.3	+	20	2249	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	ANO4_ENST00000299222.9_Missense_Mutation_p.E185K|ANO4_ENST00000392977.3_Missense_Mutation_p.E665K|ANO4_ENST00000550015.1_Missense_Mutation_p.E185K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	665						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						taatttcatggaacttggcta	0.413000										HNSCC(74;0.22)			15	42					0	0	0.033300	0	0
TMC3	342125	broad.mit.edu	37	15	81635619	81635619	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:81635619C>T	ENST00000558726.1	-	15	1853	c.1718_splice	c.e15+1	p.W573_splice	TMC3_ENST00000359440.5_Splice_Site_p.W572_splice|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGATACCTACCAAATCATTCC	0.348000													23	40					0	0	0.076483	0	0
LIN28B	389421	broad.mit.edu	37	6	105474282	105474282	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:105474282G>C	ENST00000345080.4	+	3	511	c.308G>C	c.(307-309)gGt>gCt	p.G103A		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	103					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACAGGACCTGGTGGGAGCCCC	0.393000													41	37					0	0	0.045515	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683303	71683303	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:71683303G>A	ENST00000393524.2	-	17	3994	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Silent_p.P1154P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1154P|PHLPP2_ENST00000567016.1_Silent_p.P1189P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1154						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCCCCTCAACGGGCTGGTCAT	0.562000													28	31					0	0	0.034045	0	0
GPR114	221188	broad.mit.edu	37	16	57601437	57601437	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57601437C>T	ENST00000340339.4	+	8	1278	c.755C>T	c.(754-756)tCc>tTc	p.S252F	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.S252F	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACGTACATCTCCCTCGTGGGC	0.612000													11	24					0	0	0.069234	0	0
LGI1	9211	broad.mit.edu	37	10	95557277	95557277	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:95557277C>T	ENST00000371418.4	+	8	1651	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S416L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	464					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAGGCTCCTCGTTCCAGGAT	0.443000													22	34					0	0	0.083992	0	0
PCSK9	255738	broad.mit.edu	37	1	55509558	55509558	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55509558G>A	ENST00000302118.5	+	2	540	c.250G>A	c.(250-252)Gag>Aag	p.E84K	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.E84K	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	84					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGCTGAAGGAGGAGACCCA	0.622000													132	336					0	0	0.048971	0	0
ZC3H18	124245	broad.mit.edu	37	16	88696903	88696903	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:88696903C>T	ENST00000301011.5	+	17	2777	c.2577C>T	c.(2575-2577)gaC>gaT	p.D859D	ZC3H18_ENST00000452588.2_Silent_p.D883D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	859						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTTCTCGGGACCGGAAGTCAG	0.622000													9	23					0	0	0.047766	0	0
SPTB	6710	broad.mit.edu	37	14	65262076	65262076	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:65262076G>A	ENST00000389722.3	-	11	1676	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	SPTB_ENST00000542895.1_Silent_p.I541I|SPTB_ENST00000389721.5_Silent_p.I541I|SPTB_ENST00000389720.3_Silent_p.I541I|SPTB_ENST00000556626.1_Silent_p.I541I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	541					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCATCCAGTCGATGCTGTGCA	0.637000													12	7					0	0	0.080935	0	0
THEM5	284486	broad.mit.edu	37	1	151824739	151824739	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:151824739G>A	ENST00000368817.5	-	2	451	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	107							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACCTGAGGAAACTGCCAG	0.552000													27	56					0	0	0.041601	0	0
AGMAT	79814	broad.mit.edu	37	1	15909809	15909809	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:15909809G>A	ENST00000375826.3	-	2	496	c.354C>T	c.(352-354)tcC>tcT	p.S118S	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	118					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCATGAGGGACTGGAAGG	0.527000													32	24					0	0	0.045705	0	0
ALDH9A1	223	broad.mit.edu	37	1	165634254	165634254	+	Splice_Site	SNP	C	C	T	rs140134210		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:165634254C>T	ENST00000354775.4	-	10	1767		c.e10+1		ALDH9A1_ENST00000538148.1_Splice_Site	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1						carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CAGCTCCTCACCTGACTTCTT	0.463000													29	6					0	0	0.045705	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996221	143996221	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143996221G>A	ENST00000323110.2	-	4	701	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	233					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGACGGTGGATTTGAACA	0.582000									Familial Hyperaldosteronism type I				30	20					0	0	0.054565	0	0
TRBV2	28620	broad.mit.edu	37	7	142001079	142001079	+	RNA	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:142001079C>A	ENST00000455382.2	+	0	245																											ACAGACAAATCTTGGGGCAGA	0.423000													6	23					3.59834e-05	3.62927e-05	0.021553	1	0
ABCA6	23460	broad.mit.edu	37	17	67083609	67083609	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:67083609G>A	ENST00000284425.2	-	29	3878	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1235					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTTGGGGGGAAATTCTATG	0.378000													109	96					0	0	0.048971	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192482	132192482	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:132192482C>T	ENST00000359827.3	-	2	1933	c.971G>A	c.(970-972)aGg>aAg	p.R324K	PLXNA4_ENST00000378539.5_Missense_Mutation_p.R324K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R324K|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R324K			Q9HCM2	PLXA4_HUMAN	plexin A4	324	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAAGGGTCCTGCCAAGCAC	0.592000													18	55					0	0	0.062417	0	0
MSLN	10232	broad.mit.edu	37	16	816999	816999	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:816999C>T	ENST00000566549.1	+	14	1905	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	MSLN_ENST00000545450.2_Silent_p.I496I|MSLN_ENST00000563941.1_Silent_p.I496I|MSLN_ENST00000382862.3_Silent_p.I504I			Q13421	MSLN_HUMAN	mesothelin	504					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCGTGAAGATCCAGTCCTTCC	0.622000													15	46					0	0	0.033300	0	0
PREX2	80243	broad.mit.edu	37	8	69012065	69012065	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:69012065C>T	ENST00000288368.4	+	23	2979	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	901					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGAGAATATCCAGTTATAAA	0.284000													18	30					0	0	0.038395	0	0
KMT2A	4297	broad.mit.edu	37	11	118355575	118355575	+	Splice_Site	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:118355575A>G	ENST00000534358.1	+	10	4241		c.e10-1		KMT2A_ENST00000389506.5_Splice_Site|KMT2A_ENST00000354520.4_Intron	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCTCTCCACAGGAGGATTGT	0.408000													24	29					0	0	0.099896	0	0
MCF2L	23263	broad.mit.edu	37	13	113739293	113739293	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:113739293T>G	ENST00000397030.1	+	19	2285	c.2248T>G	c.(2248-2250)Ttc>Gtc	p.F750V	MCF2L_ENST00000375608.3_Missense_Mutation_p.F747V|MCF2L_ENST00000535094.2_Missense_Mutation_p.F717V|MCF2L_ENST00000375604.2_Missense_Mutation_p.F774V|MCF2L_ENST00000375597.4_Missense_Mutation_p.F715V|MCF2L_ENST00000423482.2_Missense_Mutation_p.F715V|MCF2L_ENST00000375601.3_Missense_Mutation_p.F721V|MCF2L_ENST00000442652.2_Missense_Mutation_p.F747V|MCF2L_ENST00000421756.1_Missense_Mutation_p.F721V|MCF2L_ENST00000434480.2_Missense_Mutation_p.F723V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	747	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCCGTTTTTCCAGGTTTG	0.512000													23	39					0	0	0.091800	0	0
ZNF781	163115	broad.mit.edu	37	19	38160719	38160719	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:38160719G>A	ENST00000358582.4	-	4	1079	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	ZNF781_ENST00000590008.1_Missense_Mutation_p.H111Y|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCACCAGTATGAATTCTTTGA	0.378000													49	50					0	0	0.048971	0	0
SYT7	9066	broad.mit.edu	37	11	61318936	61318936	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:61318936C>T	ENST00000263846.4	-	3	463		c.e3-1		SYT7_ENST00000542836.1_Splice_Site|SYT7_ENST00000542670.1_Splice_Site|SYT7_ENST00000540677.1_Splice_Site|SYT7_ENST00000539008.1_Splice_Site|SYT7_ENST00000535826.1_Splice_Site	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII							cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCGTTTGCCCTGTGGAGATA	0.587000													24	47					0	0	0.076483	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494414	25494414	+	RNA	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:25494414T>C	ENST00000365503.1	+	0	70					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TCAATAGGATTACGCTGAGGC	0.488000													105	160					0	0	0.048971	0	0
DNAJC18	202052	broad.mit.edu	37	5	138764372	138764372	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:138764372C>T	ENST00000302060.5	-	3	308	c.227_splice	c.e3-1	p.R76_splice		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTTCTTGATCCTAAAAAAAA	0.373000													29	21					0	0	0.041601	0	0
OR2S2	56656	broad.mit.edu	37	9	35957626	35957626	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:35957626G>A	ENST00000341959.2	-	1	525	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTACCACGGAAGCAGCACC	0.532000													34	65					0	0	0.064281	0	0
PLAG1	5324	broad.mit.edu	37	8	57079507	57079507	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:57079507G>A	ENST00000316981.3	-	5	1277	c.798C>T	c.(796-798)ctC>ctT	p.L266L	PLAG1_ENST00000429357.2_Silent_p.L266L|PLAG1_ENST00000423799.2_Silent_p.L184L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	266	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					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)			TCACCGGAAGGAGCTCGTCTT	0.433000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								87	105					0	0	0.048971	0	0
ZNF239	8187	broad.mit.edu	37	10	44052973	44052973	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:44052973C>T	ENST00000306006.6	-	2	1207	c.555G>A	c.(553-555)ggG>ggA	p.G185G	ZNF239_ENST00000535642.1_Silent_p.G185G|ZNF239_ENST00000426961.1_Silent_p.G185G|ZNF239_ENST00000374446.2_Silent_p.G185G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAGTATTTTCCCACAGTTAT	0.423000													37	50					0	0	0.064281	0	0
RGS4	5999	broad.mit.edu	37	1	163044239	163044239	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:163044239C>T	ENST00000421743.2	+	6	958	c.798C>T	c.(796-798)ctC>ctT	p.L266L	RGS4_ENST00000527809.1_Silent_p.L151L|RGS4_ENST00000367906.3_Silent_p.L151L|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Silent_p.L169L|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000491263.1_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	169					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCCGCTTCCTCAAGTCTCGAT	0.507000													89	167					0	0	0.048971	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135111499	135111499	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:135111499G>A	ENST00000368563.2	-	5	929	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TUBGCP2_ENST00000417178.2_Silent_p.F61F|TUBGCP2_ENST00000543663.1_Silent_p.F191F|TUBGCP2_ENST00000252936.3_Silent_p.F191F	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	191					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACCAATCAGGAAATCCCCGA	0.522000													11	33					0	0	0.069234	0	0
IPCEF1	26034	broad.mit.edu	37	6	154587079	154587079	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:154587079C>T	ENST00000265198.4	-	3	158	c.3G>A	c.(1-3)atG>atA	p.M1I	IPCEF1_ENST00000422970.2_Start_Codon_SNP_p.M1I|IPCEF1_ENST00000367220.4_Start_Codon_SNP_p.M1I	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGTATGATGTCATCTTAGTAG	0.333000													50	22					0	0	0.048971	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42103104	42103104	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:42103104C>T	ENST00000457542.2	+	4	516	c.230C>T	c.(229-231)cCc>cTc	p.P77L	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P77L|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P77L|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P77L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	77										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTGTTCAATCCCCGGAAACAC	0.557000													26	55					0	0	0.108266	0	0
FLNC	2318	broad.mit.edu	37	7	128480651	128480651	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:128480651C>T	ENST00000325888.8	+	10	1860	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FLNC_ENST00000346177.6_Silent_p.F533F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	533					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						ATGGTGTGTTCGAGTGCGAGT	0.617000													43	144					0	0	0.048971	0	0
SPTA1	6708	broad.mit.edu	37	1	158627413	158627413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:158627413G>A	ENST00000368148.3	-	19	2839	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R887*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	887					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R887*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTAGCAGCTCGAGCACGGAGA	0.473000													44	91					0	0	0.048971	0	0
ZBP1	81030	broad.mit.edu	37	20	56179783	56179783	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:56179783C>T	ENST00000340462.4	-	7	1347	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ZBP1_ENST00000371173.3_Missense_Mutation_p.R379Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.R304Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	379						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			ACCAATGTCTCGAGGAAAGTG	0.552000													39	76					0	0	0.111260	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752255	15752255	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15752255C>T	ENST00000221307.7	+	2	78	c.30C>T	c.(28-30)ggC>ggT	p.G10G	CYP4F3_ENST00000591058.1_Silent_p.G10G|CYP4F3_ENST00000586182.1_Silent_p.G10G|CYP4F3_ENST00000585846.1_Silent_p.G10G	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	10					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCGCTGGGCCTTTGGCCAA	0.657000													18	35					0	0	0.049695	0	0
PROL1	58503	broad.mit.edu	37	4	71275345	71275345	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:71275345G>A	ENST00000399575.2	+	3	474	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	100	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACTCTTTCCGGGTTATCCAA	0.403000													60	87					0	0	0.048971	0	0
CRNN	49860	broad.mit.edu	37	1	152383145	152383145	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152383145C>T	ENST00000271835.3	-	3	475	c.413G>A	c.(412-414)aGa>aAa	p.R138K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	138					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTCTGTCTGTGGCTGCT	0.632000													148	58					0	0	0.048971	0	0
C11orf30	56946	broad.mit.edu	37	11	76183815	76183815	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:76183815C>T	ENST00000529032.1	+	7	1039	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	C11orf30_ENST00000334736.3_Missense_Mutation_p.P347S|C11orf30_ENST00000533248.1_Missense_Mutation_p.P361S|C11orf30_ENST00000343878.3_Missense_Mutation_p.P347S|C11orf30_ENST00000525038.1_Missense_Mutation_p.P362S|C11orf30_ENST00000524767.1_Missense_Mutation_p.P362S|C11orf30_ENST00000525919.1_Missense_Mutation_p.P348S|C11orf30_ENST00000524490.1_Missense_Mutation_p.P348S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	347	Interaction with BRCA2.|Ser-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCACCTATTCCTAATACAGT	0.453000													31	52					0	0	0.041601	0	0
IRAK3	11213	broad.mit.edu	37	12	66638963	66638963	+	Missense_Mutation	SNP	G	G	A	rs146885838		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:66638963G>A	ENST00000261233.4	+	11	1656	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R351Q	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	412	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.R412Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CCCTGCCCTCGGAATTTCTCT	0.478000													42	62					0	0	0.104719	0	0
ADORA3	140	broad.mit.edu	37	1	112043053	112043053	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:112043053C>T	ENST00000241356.4	-	2	881	c.476G>A	c.(475-477)aGa>aAa	p.R159K	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	159					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGTGACATTTCTGTGGTACTC	0.493000													41	64					0	0	0.104719	0	0
TREML3P	340206	broad.mit.edu	37	6	41185457	41185457	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:41185457C>T	ENST00000564680.1	-	0	228																											TTGTAGATTTCACACCAGTAG	0.448000													4	2					0	0	0.021553	0	0
GBA2	57704	broad.mit.edu	37	9	35741007	35741007	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:35741007C>T	ENST00000378094.4	-	5	1354	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.E287K|GBA2_ENST00000378103.3_Missense_Mutation_p.E281K			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	281					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTAGAGCTTCGTCCCCTTCA	0.567000													17	23					0	0	0.038395	0	0
NCOR2	9612	broad.mit.edu	37	12	124821309	124821309	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:124821309G>A	ENST00000356219.3	-	39	6281	c.6126C>T	c.(6124-6126)ctC>ctT	p.L2042L	NCOR2_ENST00000429285.2_Silent_p.L2025L|NCOR2_ENST00000404621.1_Silent_p.L2025L|NCOR2_ENST00000404121.2_Silent_p.L1596L|NCOR2_ENST00000397355.1_Silent_p.L2026L|NCOR2_ENST00000405201.1_Silent_p.L2035L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2046					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCAGAGAACGGAGTTCCAGTT	0.602000													16	61					0	0	0.062417	0	0
CUX1	1523	broad.mit.edu	37	7	101870745	101870745	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:101870745C>T	ENST00000360264.3	+	21	3282	c.3262C>T	c.(3262-3264)Ccc>Tcc	p.P1088S	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P919S|CUX1_ENST00000549414.2_Missense_Mutation_p.P1055S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P975S|CUX1_ENST00000550008.2_Missense_Mutation_p.P1021S|CUX1_ENST00000292535.7_Missense_Mutation_p.P1077S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1077					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGTCCAGCAGCCCTGTCCCCC	0.657000													24	107					0	0	0.076483	0	0
ACACA	31	broad.mit.edu	37	17	35633959	35633959	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:35633959C>T	ENST00000353139.5	-	7	1250	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ACACA_ENST00000335166.5_Missense_Mutation_p.E142K|ACACA_ENST00000360679.3_Missense_Mutation_p.E162K|ACACA_ENST00000394406.2_Missense_Mutation_p.E220K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	220	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAGAGAAGTTCCGGTAGTTTG	0.418000													47	104					0	0	0.048971	0	0
COL6A6	131873	broad.mit.edu	37	3	130292970	130292970	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:130292970C>T	ENST00000358511.6	+	7	3179	c.3148C>T	c.(3148-3150)Ccg>Tcg	p.P1050S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1050S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1050	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TACCTATCACCCGGAGTTTCC	0.433000													12	27					0	0	0.080935	0	0
CRISP1	167	broad.mit.edu	37	6	49803098	49803098	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:49803098C>T	ENST00000335847.4	-	8	782	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_Silent_p.L227L|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000355791.2_Silent_p.L227L|CRISP1_ENST00000329411.5_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	227					fusion of sperm to egg plasma membrane	extracellular space		p.L227L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGTTGCATCCCAGATAATGGA	0.363000													27	19					0	0	0.108266	0	0
CDH3	1001	broad.mit.edu	37	16	68714894	68714894	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68714894C>T	ENST00000264012.4	+	8	1435	c.891C>T	c.(889-891)acC>acT	p.T297T	CDH3_ENST00000429102.2_Silent_p.T297T|CDH3_ENST00000581171.1_Silent_p.T242T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	297	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACACACTGACCATCCAGGCCA	0.567000													28	56					0	0	0.041601	0	0
C11orf53	341032	broad.mit.edu	37	11	111156452	111156452	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111156452C>T	ENST00000280325.4	+	4	531	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	128										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTGCTGACCTTGCCACCCA	0.637000													38	53					0	0	0.104719	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516390	140516390	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140516390C>T	ENST00000231134.5	+	1	1591	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGAGAGA	0.617000													60	57					0	0	0.048971	0	0
NWD1	284434	broad.mit.edu	37	19	16861094	16861094	+	Silent	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:16861094C>G	ENST00000524140.2	+	6	2059	c.1641C>G	c.(1639-1641)gcC>gcG	p.A547A	NWD1_ENST00000552788.1_Silent_p.A547A|NWD1_ENST00000379808.3_Silent_p.A547A|NWD1_ENST00000523826.1_Silent_p.A341A|NWD1_ENST00000549814.1_Silent_p.A547A|NWD1_ENST00000339803.6_Silent_p.A412A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	547	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAAATGGGCCTCTTTCACCG	0.672000													9	15					0	0	0.080935	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617576	37617576	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37617576G>A	ENST00000399151.3	+	19	3383	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1100					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGACAGGACGGCCCACGGCGC	0.637000													11	30					0	0	0.080935	0	0
ZZEF1	23140	broad.mit.edu	37	17	3970484	3970484	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:3970484G>A	ENST00000381638.2	-	27	4252	c.4128C>T	c.(4126-4128)tcC>tcT	p.S1376S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1376							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATCTGCCAAGGAATAAACCT	0.398000													11	5					0	0	0.093190	0	0
RELN	5649	broad.mit.edu	37	7	103216072	103216072	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:103216072G>A	ENST00000428762.1	-	29	4385	c.4226C>T	c.(4225-4227)tCc>tTc	p.S1409F	RELN_ENST00000343529.5_Missense_Mutation_p.S1409F|RELN_ENST00000424685.2_Missense_Mutation_p.S1409F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1409	EGF-like 3.				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)		ACAAGGCTCGGATATGTACAC	0.478000													16	62					0	0	0.024245	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:2939042C>T	ENST00000378404.2	+	1	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000													56	58					0	0	0.048971	0	0
C4B	721	broad.mit.edu	37	6	31996608	31996608	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:31996608G>A	ENST00000435363.2	+	26	3453	c.3369G>A	c.(3367-3369)gtG>gtA	p.V1123V	C4B_ENST00000425700.2_Silent_p.V1123V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1123					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCTCTCCAGTGATACATAGGA	0.592000													47	62					0	0	0.048971	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007260	110007260	+	Translation_Start_Site	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:110007260A>T	ENST00000453089.2	+	0	682				ZC3H12C_ENST00000278590.3_Intron|ZC3H12C_ENST00000528673.1_Intron			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C								endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		gggtgttaggagggaggagag	0.368000													5	6					0	0	0.014758	0	0
TSPAN15	23555	broad.mit.edu	37	10	71243542	71243542	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:71243542C>T	ENST00000373290.2	+	2	314	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	64						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CTCCAGCCATCATCCTCATCC	0.552000													30	37					0	0	0.041601	0	0
FKBP5	2289	broad.mit.edu	37	6	35547853	35547853	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:35547853T>C	ENST00000536438.1	-	10	1301	c.986A>G	c.(985-987)aAg>aGg	p.K329R	FKBP5_ENST00000540787.1_Missense_Mutation_p.K150R|FKBP5_ENST00000539068.1_Missense_Mutation_p.K329R|FKBP5_ENST00000357266.4_Missense_Mutation_p.K329R	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	329					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTCTCTAAGCTTCAGGTAGCA	0.428000													34	58					0	0	0.080422	0	0
SEC14L4	284904	broad.mit.edu	37	22	30899736	30899736	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:30899736G>A	ENST00000255858.7	-	2	141	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SEC14L4_ENST00000540456.1_5'UTR|SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R20W	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	20						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGTTCTCCCGGAACTGAGCG	0.627000													15	40					0	0	0.033300	0	0
AKAP8	10270	broad.mit.edu	37	19	15482798	15482798	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:15482798C>T	ENST00000269701.2	-	7	1063	c.1003G>A	c.(1003-1005)Ggt>Agt	p.G335S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	335					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGAAGTCACCAGCTGCGTCA	0.537000													13	19					0	0	0.020292	0	0
LAMA3	3909	broad.mit.edu	37	18	21338364	21338364	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:21338364C>T	ENST00000313654.9	+	7	1193	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R318W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	318	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCAGGTTTCGGTGTGAATG	0.557000													18	20					0	0	0.055883	0	0
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:131305833C>T	ENST00000379264.2	-	15	1603	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498000													36	49					0	0	0.045515	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587513	42587513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:42587513C>T	ENST00000289957.2	+	5	1191	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	355					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R355C(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATGTGGATCGCTACTCATC	0.448000													19	43					0	0	0.038395	0	0
RBM6	10180	broad.mit.edu	37	3	50112638	50112638	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:50112638C>T	ENST00000443081.1	+	20	3644	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	RBM6_ENST00000539992.1_Missense_Mutation_p.R383C|RBM6_ENST00000266022.4_Missense_Mutation_p.R1041C|RBM6_ENST00000442092.1_Missense_Mutation_p.R519C|RBM6_ENST00000421682.1_Missense_Mutation_p.R37C|RBM6_ENST00000422955.1_Missense_Mutation_p.R519C			P78332	RBM6_HUMAN	RNA binding motif protein 6	1041					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTGCAGTGATCGTAAACTTGT	0.468000													19	26					0	0	0.038395	0	0
BSND	7809	broad.mit.edu	37	1	55472806	55472806	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55472806G>A	ENST00000371265.4	+	3	663	c.409G>A	c.(409-411)Ggg>Agg	p.G137R		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	137						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCCTGAGATGGGGCAGCCGAA	0.612000													24	67					0	0	0.091800	0	0
NPY1R	4886	broad.mit.edu	37	4	164246548	164246548	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:164246548C>T	ENST00000296533.2	-	3	1593	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	NPY1R_ENST00000509586.1_Silent_p.T111T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	354					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGTGTGCATCGTGGACATGG	0.378000													36	76					0	0	0.086207	0	0
CAPN13	92291	broad.mit.edu	37	2	30955419	30955419	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:30955419C>T	ENST00000295055.8	-	20	1988	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	CAPN13_ENST00000534090.2_Silent_p.G604G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	604					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGATGAAGATCCCTCTGAGGA	0.617000													6	11					0	0	0.021553	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656235	46656235	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:46656235C>T	ENST00000253255.5	-	1	2984	c.2985G>A	c.(2983-2985)agG>agA	p.R995R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	995					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCAGAACCTCCCTAAGCACTG	0.522000													39	85					0	0	0.086207	0	0
MYO5B	4645	broad.mit.edu	37	18	47421349	47421349	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:47421349C>T	ENST00000285039.7	-	22	3306	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E144K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1003					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGGCGTCCTCCAAGATCTTG	0.652000													31	47					0	0	0.045705	0	0
NOL11	25926	broad.mit.edu	37	17	65720284	65720284	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:65720284G>A	ENST00000253247.4	+	6	754	c.639G>A	c.(637-639)cgG>cgA	p.R213R	NOL11_ENST00000535137.1_Silent_p.R31R	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	213						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGTAGATCGGAAATTCATCT	0.308000													21	21					0	0	0.069288	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466079	24466079	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:24466079C>T	ENST00000382137.3	-	3	419	c.351G>A	c.(349-351)gaG>gaA	p.E117E	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.E117E|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	117	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GAGGCCCAGTCTCTCCTCGGA	0.597000													15	51					0	0	0.028581	0	0
RALB	5899	broad.mit.edu	37	2	121047315	121047315	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:121047315C>T	ENST00000272519.5	+	4	753	c.483C>T	c.(481-483)acC>acT	p.T161T	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Silent_p.T182T|RALB_ENST00000474855.2_Silent_p.T183T|RALB_ENST00000420510.1_Silent_p.T161T	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	161					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CAGCGAAGACCCGGGCCAACG	0.557000													22	13					0	0	0.069288	0	0
BTBD16	118663	broad.mit.edu	37	10	124066713	124066713	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:124066713C>T	ENST00000368994.2	+	10	1055	c.804C>T	c.(802-804)acC>acT	p.T268T	BTBD16_ENST00000260723.4_Silent_p.T267T			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	267										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)				GGTTATTTACCTTTAGTGAAT	0.368000													14	57					0	0	0.033300	0	0
ZNF468	90333	broad.mit.edu	37	19	53352422	53352422	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53352422C>T	ENST00000595646.1	-	3	180	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000243639.4_Silent_p.E20E			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTTCCACTCCTCCTGAGAGA	0.458000													10	191					0	0	0.020292	0	0
ARID3A	1820	broad.mit.edu	37	19	968479	968479	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:968479G>A	ENST00000263620.3	+	8	1897	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	524	REKLES.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTCGGTGGAGATCAACGG	0.602000													16	41					0	0	0.033300	0	0
OR1J2	26740	broad.mit.edu	37	9	125273492	125273492	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125273492G>A	ENST00000335302.5	+	1	412	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATCATGAGGGAAGAGCTCTG	0.473000													26	36					0	0	0.108266	0	0
PEBP4	157310	broad.mit.edu	37	8	22777734	22777734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:22777734C>T	ENST00000256404.6	-	3	312	c.221G>A	c.(220-222)tGg>tAg	p.W74*	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	74						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CGGCTCCATCCAGGAGGTGAT	0.537000													10	31					0	0	0.093190	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731111	23731111	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:23731111C>T	ENST00000397312.2	-	3	516	c.242G>A	c.(241-243)gGa>gAa	p.G81E	ELAVL2_ENST00000380110.4_Missense_Mutation_p.G110E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G81E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G81E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G81E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	81	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAGCCATATCCCAAGCTCTG	0.378000													7	11					0	0	0.029380	0	0
MUC16	94025	broad.mit.edu	37	19	9073213	9073213	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9073213G>A	ENST00000397910.4	-	3	14436	c.14233C>T	c.(14233-14235)Ccc>Tcc	p.P4745S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4747	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						TGAGAAGAGGGAGAGCTGGCT	0.488000													44	70					0	0	0.042209	0	0
PCDH15	65217	broad.mit.edu	37	10	56077108	56077108	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:56077108G>A	ENST00000373965.2	-	8	1193	c.799C>T	c.(799-801)Cct>Tct	p.P267S	PCDH15_ENST00000395446.1_Missense_Mutation_p.P267S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P267S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P267S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P267S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P230S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P267S|PCDH15_ENST00000395442.1_Missense_Mutation_p.P267S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P245S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P267S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P272S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P267S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P267S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P267S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P245S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	267					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGACACAAGGAAGAAACATT	0.478000										HNSCC(58;0.16)			39	39					0	0	0.074837	0	0
PRB3	5544	broad.mit.edu	37	12	11420780	11420780	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:11420780G>A	ENST00000381842.3	-	0	440				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACGAGGCGGGGGACCTTGG	0.642000													73	149					0	0	0.048971	0	0
MAGT1	84061	broad.mit.edu	37	X	77130979	77130979	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:77130979G>A	ENST00000358075.6	-	2	400	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MAGT1_ENST00000373336.3_Missense_Mutation_p.S73F	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	73					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GACGATAACGGAGTAATTTCT	0.408000													77	39					0	0	0.048971	0	0
KLHL10	317719	broad.mit.edu	37	17	40004299	40004299	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:40004299G>C	ENST00000293303.4	+	5	1720	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	523						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTTTGGCATCGAGGTGGTGGA	0.473000													31	59					0	0	0.059317	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521541	156521541	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:156521541G>A	ENST00000361170.2	-	15	1700	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	564					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATGGTACCGAGGGGCGACA	0.567000													16	32					0	0	0.033300	0	0
PRDM14	63978	broad.mit.edu	37	8	70981529	70981529	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:70981529C>T	ENST00000276594.2	-	2	768	c.567G>A	c.(565-567)ggG>ggA	p.G189G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGGGACTTCCCTTCTTGGT	0.587000													35	29					0	0	0.069456	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480269	140480269	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140480269G>A	ENST00000231130.2	+	1	36	c.36G>A	c.(34-36)agG>agA	p.R12R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		12					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGACAAAGGCAAGTCTTGC	0.507000													19	19					0	0	0.055883	0	0
EPC2	26122	broad.mit.edu	37	2	149519473	149519473	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:149519473C>T	ENST00000258484.6	+	5	823	c.789C>T	c.(787-789)caC>caT	p.H263H		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	263					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATTATTGCACTTAACCTTAG	0.323000													11	14					0	0	0.105934	0	0
WEE2	494551	broad.mit.edu	37	7	141408769	141408769	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:141408769G>A	ENST00000397541.2	+	1	617	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	71					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACATCTTCGGAAAAAGACAA	0.517000													112	107					0	0	0.048971	0	0
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:69552622G>A	ENST00000337103.4	+	7	2376	c.784G>A	c.(784-786)Gat>Aat	p.D262N	C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398000													10	30					0	0	0.080935	0	0
CASR	846	broad.mit.edu	37	3	121976030	121976030	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121976030G>A	ENST00000498619.1	+	3	726	c.288G>A	c.(286-288)agG>agA	p.R96R	CASR_ENST00000296154.5_Silent_p.R96R|CASR_ENST00000490131.1_Silent_p.R96R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	96					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGATACAGGATATTTGACA	0.443000													34	62					0	0	0.064281	0	0
CEP164	22897	broad.mit.edu	37	11	117279656	117279656	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:117279656C>T	ENST00000278935.3	+	29	3807	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1220					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGCAGTAACCTTCGACCTCA	0.567000													29	38					0	0	0.037714	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658918	8658918	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:8658918G>A	ENST00000328794.6	-	4	581	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	135										breast(1)|endometrium(2)|kidney(1)	4						CCATAGCCAGGAGATACTGAT	0.522000													34	29					0	0	0.080422	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347907	140347907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140347907C>T	ENST00000289269.5	+	1	2088	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		519	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCAGTCACCTCCTATGTC	0.507000													36	18					0	0	0.098360	0	0
EEPD1	80820	broad.mit.edu	37	7	36194646	36194646	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:36194646C>T	ENST00000242108.4	+	2	1431	c.713C>T	c.(712-714)cCc>cTc	p.P238L	EEPD1_ENST00000534978.1_Missense_Mutation_p.P238L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	238					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCAGGGGGGCCCACCCAGATT	0.662000													13	50					0	0	0.024245	0	0
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:31722980G>A	ENST00000266269.5	-	5	2590	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	PATZ1_ENST00000351933.4_Missense_Mutation_p.S608F|PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567000													29	47					0	0	0.030593	0	0
PKP1	5317	broad.mit.edu	37	1	201287835	201287835	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:201287835C>T	ENST00000263946.3	+	6	1395	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	PKP1_ENST00000367324.3_Missense_Mutation_p.P382S|PKP1_ENST00000352845.3_Missense_Mutation_p.P382S|PKP1_ENST00000475988.1_3'UTR	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	382					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CGTCATCATTCCCTTCTCTGG	0.587000													6	21					0	0	0.029380	0	0
VIL1	7429	broad.mit.edu	37	2	219295635	219295635	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:219295635G>A	ENST00000440053.1	+	9	1150	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	VIL1_ENST00000248444.5_Intron|VIL1_ENST00000392114.2_Intron			P09327	VILI_HUMAN	villin 1	0	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAGCCAGGATCCAGGAGC	0.627000													6	3					0	0	0.021553	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292979	143292979	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:143292979G>A	ENST00000316549.6	-	8	1159	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	317					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.L318fs*45(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGAAAGCAGGAAAAACAGGC	0.498000													13	31					0	0	0.020292	0	0
GABRA2	2555	broad.mit.edu	37	4	46252457	46252457	+	Silent	SNP	C	C	T	rs145736784		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46252457C>T	ENST00000510861.1	-	10	1397	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	GABRA2_ENST00000540012.1_Silent_p.K413K|GABRA2_ENST00000507069.1_Silent_p.K468K|GABRA2_ENST00000514090.1_Silent_p.K408K|GABRA2_ENST00000356504.1_Silent_p.K408K|GABRA2_ENST00000381620.4_Silent_p.K408K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	408					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.K408N(2)|p.K408K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAAGTTTTCTTTGCTTCAG	0.398000													80	131					0	0	0.048971	0	0
ABCB5	340273	broad.mit.edu	37	7	20739546	20739546	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:20739546C>T	ENST00000404938.2	+	18	2905	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	ABCB5_ENST00000258738.6_Silent_p.F306F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	306	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTATTTCATGCAGGTAA	0.294000													25	16					0	0	0.083992	0	0
CASR	846	broad.mit.edu	37	3	121980875	121980875	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121980875G>A	ENST00000498619.1	+	4	1431	c.993G>A	c.(991-993)cgG>cgA	p.R331R	CASR_ENST00000296154.5_Silent_p.R331R|CASR_ENST00000490131.1_Silent_p.R331R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	331					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGGCTTCCGGGAATTCCTGA	0.547000													19	33					0	0	0.038395	0	0
GALNT13	114805	broad.mit.edu	37	2	154801065	154801065	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:154801065C>T	ENST00000392825.3	+	3	622	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	GALNT13_ENST00000409237.1_Missense_Mutation_p.L19F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	19						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATGTGGGTTCTTGTTGATGT	0.423000													57	74					0	0	0.048971	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136831	40136831	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:40136831C>T	ENST00000278198.2	-	2	2975	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G338R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G338R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G338R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	338	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGTACCTCCCCTTTAGATTG	0.527000													16	27					0	0	0.028581	0	0
INPP5D	3635	broad.mit.edu	37	2	234077952	234077952	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234077952G>A	ENST00000359570.5	+	16	1521	c.1519_splice	c.e16-1	p.G507_splice	INPP5D_ENST00000450745.1_Splice_Site_p.G271_splice|INPP5D_ENST00000538935.1_Splice_Site_p.G506_splice|INPP5D_ENST00000455936.2_Splice_Site_p.G271_splice			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	519					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCTTTTTAGGGAACAAGGGAG	0.483000													3	18					0	0	0.004672	0	0
METTL21C	196541	broad.mit.edu	37	13	103338770	103338770	+	Nonsense_Mutation	SNP	G	G	A	rs141134679		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103338770G>A	ENST00000267273.6	-	4	411	c.406C>T	c.(406-408)Caa>Taa	p.Q136*		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	136							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCTGTGACTTGAGCTCCTAAG	0.408000													10	24					0	0	0.093190	0	0
HIP1R	9026	broad.mit.edu	37	12	123339876	123339876	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:123339876C>T	ENST00000253083.4	+	11	1042	c.917C>T	c.(916-918)cCc>cTc	p.P306L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	306					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GTGGTGATCCCCGAGGAGGCC	0.687000													5	8					0	0	0.014758	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960705	33960705	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33960705C>T	ENST00000361328.3	+	8	2914	c.2761C>T	c.(2761-2763)Cac>Tac	p.H921Y		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	921					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGGCCAACCACCAGCGCAC	0.522000													20	77					0	0	0.055883	0	0
BCR	613	broad.mit.edu	37	22	23652513	23652513	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:23652513C>T	ENST00000305877.8	+	18	3826	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.I981I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1025					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACTGTAGATCGAAGTAAAGC	0.527000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								12	42					0	0	0.062417	0	0
CTR9	9646	broad.mit.edu	37	11	10785008	10785008	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:10785008C>T	ENST00000361367.2	+	8	1306	c.880C>T	c.(880-882)Cat>Tat	p.H294Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	294					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTGGCCCTCCATGCATTCCA	0.383000													10	22					0	0	0.080935	0	0
MUC17	140453	broad.mit.edu	37	7	100684337	100684337	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:100684337A>G	ENST00000306151.4	+	3	9704	c.9640A>G	c.(9640-9642)Acc>Gcc	p.T3214A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3214	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATTCCAACCTCAACTCC	0.498000													220	169					0	0	0.048971	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906327	164906327	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:164906327C>T	ENST00000475390.1	-	2	2735	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	SLITRK3_ENST00000241274.3_Silent_p.V764V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	764						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGAAACAGCCACCTCCTCCT	0.577000										HNSCC(40;0.11)			39	55					0	0	0.042209	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457655	110457655	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110457655G>A	ENST00000378402.5	+	38	5661	c.5557G>A	c.(5557-5559)Gga>Aga	p.G1853R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1853	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATCACAGGAAATGGCTT	0.502000										HNSCC(38;0.096)			24	28					0	0	0.091800	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521270	33521270	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:33521270G>A	ENST00000297307.5	-	1	142	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	19						integral to membrane											GTGGAGCGGAGGGCGGCGATG	0.662000													21	33					0	0	0.055883	0	0
CCR6	1235	broad.mit.edu	37	6	167549877	167549877	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:167549877C>T	ENST00000341935.5	+	3	711	c.159C>T	c.(157-159)taC>taT	p.Y53Y	CCR6_ENST00000349984.4_Silent_p.Y53Y|CCR6_ENST00000400926.2_Silent_p.Y53Y	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	53					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CGATTGCCTACTCCTTGATCT	0.448000													52	21					0	0	0.048971	0	0
DMBT1	1755	broad.mit.edu	37	10	124351962	124351962	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:124351962G>A	ENST00000368909.3	+	20	2457	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DMBT1_ENST00000344338.3_Missense_Mutation_p.G774E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G774E|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.G784E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	784	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGGCCCCAGGAAATGCCCGG	0.627000													91	120					0	0	0.048971	0	0
NEFM	4741	broad.mit.edu	37	8	24773136	24773136	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:24773136G>A	ENST00000221166.5	+	2	1881	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	NEFM_ENST00000437366.2_Missense_Mutation_p.E367K|NEFM_ENST00000433454.2_5'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E367K|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	367	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)		CCAGCAGCTGGAAAATGAGCT	0.517000													22	48					0	0	0.062417	0	0
ZNF230	7773	broad.mit.edu	37	19	44515002	44515002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44515002C>T	ENST00000429154.2	+	5	1039	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCAGAAACATCAGATAATTCA	0.418000													24	42					0	0	0.076483	0	0
PDGFD	80310	broad.mit.edu	37	11	103814348	103814348	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:103814348C>T	ENST00000302251.5	-	5	1037	c.586G>A	c.(586-588)Gat>Aat	p.D196N	PDGFD_ENST00000393158.2_Missense_Mutation_p.D202N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	202					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.D202Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGAGTGGGATCCGTTACTGAT	0.418000													7	16					0	0	0.047766	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858299	9858299	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:9858299C>T	ENST00000396573.2	-	14	3411	c.3102G>A	c.(3100-3102)agG>agA	p.R1034R	GRIN2A_ENST00000562109.1_Silent_p.R1034R|GRIN2A_ENST00000404927.2_Silent_p.R1034R|GRIN2A_ENST00000535259.1_Silent_p.R877R|GRIN2A_ENST00000330684.3_Silent_p.R1034R|GRIN2A_ENST00000396575.2_Silent_p.R1034R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1034					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)	TTGCCTCATCCCTCTGGGAGA	0.517000													62	121					0	0	0.048971	0	0
DUSP27	92235	broad.mit.edu	37	1	167096288	167096288	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:167096288C>T	ENST00000361200.2	+	6	2086	c.1920C>T	c.(1918-1920)agC>agT	p.S640S	DUSP27_ENST00000271385.5_Silent_p.S640S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.S640S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	640					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						TGGAGGAGAGCCAGTCTATGG	0.642000													7	19					0	0	0.038147	0	0
ZNF425	155054	broad.mit.edu	37	7	148801946	148801946	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:148801946G>A	ENST00000378061.2	-	4	1149	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	339					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTTCAGGCGGAAGCACCGGT	0.662000													17	81					0	0	0.033300	0	0
IL9R	3581	broad.mit.edu	37	X	155237263	155237263	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:155237263G>A	ENST00000424344.3	+	9	1267	c.900G>A	c.(898-900)ggG>ggA	p.G300G	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000244174.5_Silent_p.G321G|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000494962.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	321					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TACACAATGGGAACTTCCAGG	0.572000													25	41					0	0	0.054565	0	0
SH3RF1	57630	broad.mit.edu	37	4	170051274	170051274	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:170051274G>A	ENST00000284637.9	-	6	1443	c.1102C>T	c.(1102-1104)Ccg>Tcg	p.P368S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	368						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTGGGGGCGGGGTCACAATT	0.438000													6	22					0	0	0.029380	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	G	A	rs148140727		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140558546G>A	ENST00000239444.2	+	1	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000													33	112					0	0	0.050027	0	0
SAMD12	401474	broad.mit.edu	37	8	119592994	119592994	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:119592994C>T	ENST00000409003.4	-	2	280	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD12_ENST00000314727.4_Missense_Mutation_p.G51E	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	51										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CTTGGGAGTTCCTTTCTGGTC	0.428000													50	40					0	0	0.048971	0	0
PADI2	11240	broad.mit.edu	37	1	17395735	17395735	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:17395735G>A	ENST00000375486.4	-	16	1865	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.P485L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	601					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)	GAATGGCTTGGGGATGCCCAG	0.587000													42	32					0	0	0.039052	0	0
FOXN4	121643	broad.mit.edu	37	12	109717634	109717634	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:109717634T>C	ENST00000299162.5	-	10	1500	c.1396A>G	c.(1396-1398)Acc>Gcc	p.T466A	FOXN4_ENST00000355216.1_Missense_Mutation_p.T286A	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	466					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G284_P287>A(1)		large_intestine(5)|lung(9)|ovary(2)	16						GAGGCAGGGGTTAGGCCTGAG	0.627000													8	19					0	0	0.038147	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128139	233128139	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:233128139C>T	ENST00000325385.7	+	13	1924	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R550C	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	550							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGGCGCACTTCGTTTGGATCA	0.542000													15	24					0	0	0.028581	0	0
LTBP2	4053	broad.mit.edu	37	14	75022393	75022393	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:75022393G>A	ENST00000261978.4	-	4	1220	c.834C>T	c.(832-834)acC>acT	p.T278T	LTBP2_ENST00000556690.1_Silent_p.T278T|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	278					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCACTCAGGGTCCTGTGGA	0.627000													19	8					0	0	0.049695	0	0
AHCY	191	broad.mit.edu	37	20	32879332	32879332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:32879332G>A	ENST00000538132.1	-	5	753	c.367C>T	c.(367-369)Cga>Tga	p.R123*	AHCY_ENST00000217426.2_Nonsense_Mutation_p.R151*|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	151					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGATGCCTCGGATGCCTAAA	0.522000													30	35					0	0	0.034045	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947754	47947754	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:47947754G>A	ENST00000289672.2	-	9	1372	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	441					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCAGACACGGCCTCATGGCC	0.453000													30	28					0	0	0.030593	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097854	102097854	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:102097854C>T	ENST00000292566.3	-	3	935	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	299						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CACGGGTCTTCCCTGGAAGGA	0.607000													66	27					0	0	0.048971	0	0
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3238348G>A	ENST00000217939.6	-	5	5532	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483000													15	5					0	0	0.020292	0	0
SOGA3	387104	broad.mit.edu	37	6	127797362	127797362	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:127797362C>T	ENST00000556132.1	-	6	2673	c.1809G>A	c.(1807-1809)agG>agA	p.R603R	SOGA3_ENST00000525778.1_Silent_p.R603R|SOGA3_ENST00000481848.2_Silent_p.R603R|SOGA3_ENST00000465909.2_Silent_p.R603R|SOGA3_ENST00000368268.2_Silent_p.R603R	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	603						integral to membrane											CGACGATTTTCCTGCCCAGGA	0.607000													43	30					0	0	0.111260	0	0
EMR1	2015	broad.mit.edu	37	19	6897305	6897305	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:6897305C>T	ENST00000312053.4	+	4	421	c.384C>T	c.(382-384)ttC>ttT	p.F128F	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Silent_p.F128F|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000250572.8_Silent_p.F128F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	128	EGF-like 2; calcium-binding (Potential).				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)					CGGGCAATTTCTCCTGTACTG	0.493000													16	34					0	0	0.038395	0	0
GPR98	84059	broad.mit.edu	37	5	89925345	89925345	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:89925345T>G	ENST00000405460.2	+	9	1924	c.1828T>G	c.(1828-1830)Ttt>Gtt	p.F610V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	610					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)		tggagctcactttctagtaca	0.318000													20	38					0	0	0.062417	0	0
DSG3	1830	broad.mit.edu	37	18	29039837	29039837	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:29039837G>A	ENST00000257189.4	+	6	630	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	183	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATGCCACAGATGCAGATGA	0.363000													9	21					0	0	0.093190	0	0
SRCAP	10847	broad.mit.edu	37	16	30736335	30736335	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:30736335G>A	ENST00000262518.4	+	25	5975	c.5590G>A	c.(5590-5592)Gct>Act	p.A1864T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1706T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1802T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1864	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCCTCCACTGCTACCTCGTT	0.602000													34	86					0	0	0.064281	0	0
FCGBP	8857	broad.mit.edu	37	19	40373974	40373974	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:40373974G>C	ENST00000221347.6	-	26	12111	c.12104C>G	c.(12103-12105)tCc>tGc	p.S4035C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4035	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATGCCTCCGGAGGGCTGGCA	0.637000													4	27					0	0	0.021553	0	0
PPIG	9360	broad.mit.edu	37	2	170493779	170493779	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:170493779C>T	ENST00000260970.3	+	14	2231	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	PPIG_ENST00000448752.2_Missense_Mutation_p.H671Y|PPIG_ENST00000409714.3_Missense_Mutation_p.H656Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	671					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGTCGTGATCATAATAGCTC	0.353000													29	59					0	0	0.045705	0	0
SP140L	93349	broad.mit.edu	37	2	231222635	231222635	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:231222635C>T	ENST00000243810.6	+	3	223	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F	SP140L_ENST00000415673.2_Missense_Mutation_p.L75F|SP140L_ENST00000444636.1_Missense_Mutation_p.L75F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.L75F|SP140L_ENST00000458341.1_5'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	75	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ATTTCCATTCCTTGAGGGCCT	0.373000													48	124					0	0	0.048971	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:21227313C>T	ENST00000233242.1	-	28	12042	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3972					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)	GTGCGCTTTTCCTTCCCATTC	0.463000													187	396					0	0	0.048971	0	0
TRIM56	81844	broad.mit.edu	37	7	100731662	100731662	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:100731662G>A	ENST00000306085.6	+	3	1366	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	357					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTCCATCCTGGGCTCCTGGA	0.667000													8	26					0	0	0.058154	0	0
MRC2	9902	broad.mit.edu	37	17	60766297	60766297	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:60766297G>A	ENST00000303375.5	+	23	3712	c.3310G>A	c.(3310-3312)Ggc>Agc	p.G1104S	MRC2_ENST00000580916.1_3'UTR|MRC2_ENST00000446119.2_Missense_Mutation_p.M49I	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1104	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAGACCCATGGCTTCATCTG	0.662000													13	36					0	0	0.028581	0	0
ATF2	1386	broad.mit.edu	37	2	175962288	175962288	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:175962288G>A	ENST00000264110.2	-	11	1160	c.862C>T	c.(862-864)Cca>Tca	p.P288S	ATF2_ENST00000538946.1_Missense_Mutation_p.P270S|ATF2_ENST00000392544.1_Missense_Mutation_p.P288S|ATF2_ENST00000426833.3_Missense_Mutation_p.P270S|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.P172S|ATF2_ENST00000409635.1_Missense_Mutation_p.P230S|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.P230S|ATF2_ENST00000409499.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	288					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTGGTAACTGGAGGATGTTGC	0.413000													22	43					0	0	0.076483	0	0
CPNE4	131034	broad.mit.edu	37	3	131624237	131624237	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:131624237G>A	ENST00000512055.1	-	6	2177	c.51C>T	c.(49-51)atC>atT	p.I17I	CPNE4_ENST00000429747.1_Silent_p.I17I|CPNE4_ENST00000511604.1_Silent_p.I17I|CPNE4_ENST00000512332.1_Silent_p.I35I|CPNE4_ENST00000502818.1_Silent_p.I35I			Q96A23	CPNE4_HUMAN	copine IV	17										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						GGCTGTTAAAGATTCCCAGTG	0.458000													16	25					0	0	0.028581	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623370	46623370	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:46623370C>T	ENST00000398637.5	-	4	869	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	SLC38A1_ENST00000552197.1_Missense_Mutation_p.E59K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E59K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E59K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E59K|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	59					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTCTTTTTTTCCAAATGGCTG	0.279000													22	58					0	0	0.083992	0	0
INADL	10207	broad.mit.edu	37	1	62574124	62574124	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:62574124C>T	ENST00000371158.2	+	34	4507	c.4393C>T	c.(4393-4395)Cat>Tat	p.H1465Y	INADL_ENST00000545929.1_Intron|INADL_ENST00000543708.1_Missense_Mutation_p.H279Y|INADL_ENST00000316485.6_Missense_Mutation_p.H1495Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1465	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATAGTTATCCATGAAGTCTA	0.348000													19	24					0	0	0.043863	0	0
GRM8	2918	broad.mit.edu	37	7	126544666	126544666	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:126544666T>G	ENST00000339582.2	-	4	1607	c.799A>C	c.(799-801)Aaa>Caa	p.K267Q	GRM8_ENST00000358373.3_Missense_Mutation_p.K267Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.K267Q|GRM8_ENST00000405249.1_Missense_Mutation_p.K267Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	267					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCAGGCGTTTGATAATTTTT	0.408000										HNSCC(24;0.065)			15	64					0	0	0.020292	0	0
USP21	27005	broad.mit.edu	37	1	161133736	161133736	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:161133736G>A	ENST00000368002.3	+	9	1560	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Missense_Mutation_p.E395K|USP21_ENST00000289865.8_Missense_Mutation_p.E395K	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	395					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACGACCTTCGAGGTTTTTTG	0.572000													25	44					0	0	0.108266	0	0
TSPAN32	10077	broad.mit.edu	37	11	2339139	2339139	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:2339139G>A	ENST00000182290.4	+	10	1085	c.948G>A	c.(946-948)cgG>cgA	p.R316R	TSPAN32_ENST00000451520.2_Silent_p.R305R|TSPAN32_ENST00000381121.3_3'UTR	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	316					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		gccctgagcggggtctctcag	0.592000													10	21					0	0	0.105934	0	0
COL3A1	1281	broad.mit.edu	37	2	189854129	189854129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:189854129C>T	ENST00000304636.3	+	8	814	c.644C>T	c.(643-645)cCa>cTa	p.P215L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P215L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	215	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)	CAGGGCCCTCCAGGACCTCCT	0.338000													5	8					0	0	0.021553	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409709	121409709	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121409709G>A	ENST00000393667.3	-	14	8612	c.8502C>T	c.(8500-8502)aaC>aaT	p.N2834N	GOLGB1_ENST00000340645.5_Silent_p.N2829N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2829					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTGCACTTGGTTATAAGAAT	0.443000													7	17					0	0	0.038147	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203833	5203833	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:5203833G>A	ENST00000334314.3	-	3	440	c.364C>T	c.(364-366)Cca>Tca	p.P122S						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ATAGCAAATGGTACATGAATA	0.408000													15	13					0	0	0.038395	0	0
MYO9A	4649	broad.mit.edu	37	15	72192259	72192259	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:72192259A>G	ENST00000356056.5	-	24	3711	c.3239T>C	c.(3238-3240)cTt>cCt	p.L1080P	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1061P|MYO9A_ENST00000566885.1_Missense_Mutation_p.L700P|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1080P|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1080P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1080	IQ 3.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCTTGGAGAAGAGCAGCTGC	0.488000													8	25					0	0	0.047766	0	0
PARP4	143	broad.mit.edu	37	13	25029328	25029328	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:25029328G>A	ENST00000381989.3	-	22	2690	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	862					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)		ATCGAGATCGGGTTGAAAGAC	0.478000													27	45					0	0	0.108266	0	0
DCLK3	85443	broad.mit.edu	37	3	36778887	36778887	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:36778887C>T	ENST00000416516.2	-	2	1754	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	422	Protein kinase.		E -> K (in a colorectal adenocarcinoma sample; somatic mutation).			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E422K(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGTCTGTTTCGTAGACTTCA	0.507000													29	43					0	0	0.034045	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991690	39991690	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:39991690C>T	ENST00000332312.3	-	4	711	c.519G>A	c.(517-519)agG>agA	p.R173R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	173						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGGCCTTTCCTTCCTGGGA	0.577000													7	2					0	0	0.029380	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529680	5529680	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5529680C>T	ENST00000311659.4	-	2	1256	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370								p.S370I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTCCTGGCTTTGGCTGAG	0.542000													58	127					0	0	0.048971	0	0
DNAH5	1767	broad.mit.edu	37	5	13735983	13735983	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13735983C>T	ENST00000265104.4	-	67	11618	c.11514G>A	c.(11512-11514)gaG>gaA	p.E3838E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3838					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)					TCTGATACATCTCATTAACCA	0.498000									Kartagener syndrome				25	55					0	0	0.108266	0	0
COL11A2	1302	broad.mit.edu	37	6	33156166	33156166	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:33156166G>A	ENST00000341947.2	-	4	806	c.579C>T	c.(577-579)gcC>gcT	p.A193A	COL11A2_ENST00000374712.1_Silent_p.A193A|COL11A2_ENST00000357486.1_Silent_p.A193A|COL11A2_ENST00000374708.4_Silent_p.A193A|COL11A2_ENST00000395194.1_Silent_p.A193A|COL11A2_ENST00000374714.1_Silent_p.A193A|COL11A2_ENST00000374713.1_Silent_p.A193A|COL11A2_ENST00000395197.1_Silent_p.A193A|COL11A2_ENST00000361917.1_Silent_p.A193A	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	193	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGAATACGGGCACCAAAGA	0.542000													26	68					0	0	0.091800	0	0
MUC16	94025	broad.mit.edu	37	19	9074987	9074987	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9074987C>T	ENST00000397910.4	-	3	12662	c.12459G>A	c.(12457-12459)gtG>gtA	p.V4153V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4155	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						TGGTTTCTTCCACAGAGGGAG	0.498000													34	70					0	0	0.064281	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514357	113514357	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:113514357C>T	ENST00000541405.1	-	4	619	c.96G>A	c.(94-96)agG>agA	p.R32R	CKAP2L_ENST00000302450.6_Silent_p.R197R|CKAP2L_ENST00000481732.1_5'UTR			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	197						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GATCTGGCTTCCTCTCAGGTT	0.338000													18	31					0	0	0.033300	0	0
HP1BP3	50809	broad.mit.edu	37	1	21100054	21100054	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:21100054G>A	ENST00000312239.5	-	5	539	c.400C>T	c.(400-402)Cct>Tct	p.P134S	HP1BP3_ENST00000375003.2_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	134					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCCCAGGAAGGAATTGTTTTT	0.418000													9	24					0	0	0.047766	0	0
CCER1	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:91347528C>T	ENST00000358859.2	-	1	1425	c.992G>A	c.(991-993)gGa>gAa	p.G331E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		ctcctcctctccctcctccac	0.547000													13	23					0	0	0.093190	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627473	234627473	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234627473A>T	ENST00000373409.3	+	1	50	c.7A>T	c.(7-9)Aga>Tga	p.R3*	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TGAGATGGCCAGAGGACTCCA	0.597000											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	19					0	0	0.076483	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976313	7976313	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:7976313C>T	ENST00000397981.3	+	9	1052	c.950C>T	c.(949-951)cCc>cTc	p.P317L	MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000397983.3_Intron|MAP2K7_ENST00000545011.1_Intron			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	312	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGCCCGTCTCCCTCCCAGGTG	0.597000													18	46					0	0	0.062417	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822943	31822943	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31822943C>T	ENST00000382902.1	-	4	711	c.619G>A	c.(619-621)Gat>Aat	p.D207N	OTUD7A_ENST00000307050.4_Missense_Mutation_p.D207N			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	207	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGTTCCCATCCCCTGTTGTG	0.537000													17	46					0	0	0.043863	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462516	105462516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:105462516G>A	ENST00000258494.9	-	4	715	c.575C>T	c.(574-576)cCt>cTt	p.P192L	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P192L	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	192	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GATTCCTTCAGGAAAAAGAAA	0.353000													16	21					0	0	0.028581	0	0
COL28A1	340267	broad.mit.edu	37	7	7491972	7491972	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:7491972C>T	ENST00000399429.3	-	18	1627	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	496					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACTCCAATTCCCACTGGTCC	0.398000													22	71					0	0	0.099896	0	0
C9orf43	257169	broad.mit.edu	37	9	116186556	116186556	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:116186556C>T	ENST00000288462.4	+	8	1213	c.767C>T	c.(766-768)tCt>tTt	p.S256F	C9orf43_ENST00000374165.1_Missense_Mutation_p.S256F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	256										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTGTGATTTCTTCTAAGATG	0.433000													72	105					0	0	0.048971	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951765	119951765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:119951765C>T	ENST00000307142.4	+	4	2031	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P612L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P612L|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	612	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGACGAGTCCCATTGCTGAC	0.572000													37	62					0	0	0.098360	0	0
OR52N1	79473	broad.mit.edu	37	11	5809912	5809912	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5809912G>A	ENST00000317078.1	-	1	134	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		ACATAAGGCCGAAGTTCCCTG	0.463000													17	30					0	0	0.033300	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656742	8656742	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8656742G>A	ENST00000270328.4	-	14	2005	c.1739C>T	c.(1738-1740)aCc>aTc	p.T580I	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.T580I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.P71S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	580	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCCCCGATGGTTGGCCTGGA	0.667000													25	41					0	0	0.030593	0	0
NPSR1	387129	broad.mit.edu	37	7	34851472	34851472	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:34851472G>A	ENST00000360581.1	+	4	603	c.475G>A	c.(475-477)Gga>Aga	p.G159R	NPSR1_ENST00000359791.1_Missense_Mutation_p.G159R|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.G148R|NPSR1_ENST00000381539.3_Missense_Mutation_p.G159R	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	159						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)	GTTCCTTCAAGGAGGTGAGCT	0.448000													31	103					0	0	0.045705	0	0
OR52B4	143496	broad.mit.edu	37	11	4388942	4388942	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4388942C>T	ENST00000408920.2	-	1	674	c.584G>A	c.(583-585)cGa>cAa	p.R195Q		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGTTTATTCGAATGTCATT	0.338000													18	26					0	0	0.038395	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191163	185191163	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:185191163C>T	ENST00000265026.3	+	11	2378	c.2044C>T	c.(2044-2046)Cca>Tca	p.P682S	MAP3K13_ENST00000424227.1_Missense_Mutation_p.P682S|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P538S|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P538S|MAP3K13_ENST00000446828.1_Missense_Mutation_p.P475S	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	682					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.P682S(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTGCGGAGCCCACTCAGCAA	0.592000													30	60					0	0	0.050027	0	0
PEBP4	157310	broad.mit.edu	37	8	22777733	22777733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:22777733C>T	ENST00000256404.6	-	3	313	c.222G>A	c.(220-222)tgG>tgA	p.W74*	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	74						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCGGCTCCATCCAGGAGGTGA	0.537000													10	31					0	0	0.093190	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													6	32					0	0	0.029380	0	0
ZNF506	440515	broad.mit.edu	37	19	19906124	19906124	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:19906124T>A	ENST00000443905.2	-	4	719	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y159F|ZNF506_ENST00000540806.2_Missense_Mutation_p.Y191F			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AATTTTCTTATATGTAGTACG	0.313000													8	12					0	0	0.047766	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265584	37265584	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:37265584C>T	ENST00000315392.4	-	3	527	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	PLXDC1_ENST00000539608.1_Missense_Mutation_p.E33K|PLXDC1_ENST00000444911.2_Missense_Mutation_p.E66K|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.E106K	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	106					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCCACAGTTCCCGGCTGTGG	0.602000													17	21					0	0	0.028581	0	0
CFAP221	200373	broad.mit.edu	37	2	120362534	120362534	+	Missense_Mutation	SNP	G	G	A	rs141477875		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:120362534G>A	ENST00000602047.1	+	11	1249	c.137G>A	c.(136-138)gGa>gAa	p.G46E	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.G332E			Q4G0U5	PCDP1_HUMAN		332						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGAACCAGGAAAATTGAAG	0.383000													29	70					0	0	0.034045	0	0
OR2M4	26245	broad.mit.edu	37	1	248403116	248403116	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248403116G>A	ENST00000306687.1	+	1	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			CCGCAACAAAGAAGTGTTCAG	0.423000													13	38					0	0	0.020292	0	0
UBN1	29855	broad.mit.edu	37	16	4924977	4924977	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:4924977C>T	ENST00000396658.4	+	14	3269	c.2566C>T	c.(2566-2568)Ccc>Tcc	p.P856S	UBN1_ENST00000590769.1_Missense_Mutation_p.P856S|UBN1_ENST00000545171.1_Missense_Mutation_p.P856S|UBN1_ENST00000262376.6_Missense_Mutation_p.P856S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	856					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGGCTTCCATCCCTCTGCACC	0.592000													17	49					0	0	0.033300	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634601	113634601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:113634601C>T	ENST00000358160.4	+	10	1498	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.H131Y|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.H65Y|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.H169Y	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	336						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCGTATTTTTCATATCAGTGC	0.338000													27	41					0	0	0.037714	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407925	75407925	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:75407925C>T	ENST00000394810.2	-	4	1634	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	SYNPO2L_ENST00000372873.4_Silent_p.A271A|SYNPO2L_ENST00000372872.4_Silent_p.A495A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	495	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGTCGTTCGCCCTTTTGG	0.652000													6	24					0	0	0.029380	0	0
STX5	6811	broad.mit.edu	37	11	62592569	62592569	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62592569G>A	ENST00000294179.3	-	8	771	c.618C>T	c.(616-618)agC>agT	p.S206S	STX5_ENST00000541317.1_Silent_p.S110S|STX5_ENST00000377897.4_Silent_p.S206S|STX5_ENST00000394690.1_Silent_p.S152S	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	206					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GCTCTCTCCGGCTCCTCTGCT	0.582000													18	25					0	0	0.038395	0	0
TAP2	6891	broad.mit.edu	37	6	32803453	32803453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32803453G>A	ENST00000374897.2	-	4	837	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	TAP2_ENST00000374899.4_Nonsense_Mutation_p.Q236*|TAP2_ENST00000452392.2_Nonsense_Mutation_p.Q236*	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	236	ABC transmembrane type-1.				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										CCGAGGTCCTGGCGCAGCAGG	0.592000													21	54					0	0	0.062417	0	0
FGF12	2257	broad.mit.edu	37	3	192125916	192125916	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:192125916G>A	ENST00000454309.2	-	1	922	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	FGF12_ENST00000264730.3_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000445105.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	33					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCTTTGCTGGGGCTGGAGCGG	0.677000													48	58					0	0	0.048971	0	0
C1orf94	84970	broad.mit.edu	37	1	34666393	34666393	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:34666393G>A	ENST00000488417.1	+	3	1150	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	C1orf94_ENST00000373374.3_Missense_Mutation_p.E154K	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	154							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGGCACCAAGGAGCCAAAAAA	0.562000													24	83					0	0	0.091800	0	0
WASF2	10163	broad.mit.edu	37	1	27736451	27736451	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27736451G>A	ENST00000430629.2	-	8	1289	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	358					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CAAAATCAGGGTGAGGTGGGA	0.622000													32	86					0	0	0.080422	0	0
SLC16A1	6566	broad.mit.edu	37	1	113471845	113471845	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:113471845G>A	ENST00000538576.1	-	2	917	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Missense_Mutation_p.S29F|SLC16A1_ENST00000433570.4_Missense_Mutation_p.S29F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	29					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	GAAGCCGATGGAAATGAAAGC	0.468000													34	8					0	0	0.069456	0	0
SAE1	10055	broad.mit.edu	37	19	47706966	47706966	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:47706966T>C	ENST00000270225.7	+	8	985	c.917T>C	c.(916-918)gTt>gCt	p.V306A	SAE1_ENST00000413379.3_Intron|SAE1_ENST00000392776.3_Silent_p.L258L|SAE1_ENST00000598840.1_Missense_Mutation_p.V225A|SAE1_ENST00000540850.1_Missense_Mutation_p.V132A	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	306					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGTGCGGTGGTTGGAGGGATT	0.458000													47	70					0	0	0.048971	0	0
CFLAR	8837	broad.mit.edu	37	2	202025477	202025477	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:202025477C>T	ENST00000309955.2	+	9	1631	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	CFLAR_ENST00000423241.2_Silent_p.L372L|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Silent_p.L372L|CFLAR_ENST00000479953.2_Silent_p.L276L|CFLAR_ENST00000341582.6_Silent_p.L337L|CFLAR_ENST00000340870.5_Silent_p.L372L|CFLAR_ENST00000443227.1_Silent_p.L276L	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	372	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.			L -> F (in Ref. 6; AAB99793).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACAGCAGCCTCTTGGAGGTGG	0.512000													21	30					0	0	0.062417	0	0
RNF113B	140432	broad.mit.edu	37	13	98829181	98829181	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:98829181C>T	ENST00000267291.6	-	1	338	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	104							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCCTCTGGCCCCACAGGCTTC	0.687000													11	25					0	0	0.024245	0	0
PALB2	79728	broad.mit.edu	37	16	23641356	23641356	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:23641356G>A	ENST00000261584.4	-	5	2271	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	707					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTATTTAAAGGAGTATAAAGT	0.458000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					34	48					0	0	0.059317	0	0
OR5T2	219464	broad.mit.edu	37	11	56000222	56000222	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:56000222C>T	ENST00000313264.4	-	1	515	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCTGTGGTTCCAAAACTACA	0.408000													32	78					0	0	0.045705	0	0
ZFP90	146198	broad.mit.edu	37	16	68597303	68597303	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68597303C>T	ENST00000570495.1	+	5	905	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	ZFP90_ENST00000563169.2_Missense_Mutation_p.L205F|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.L205F			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	205					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAATAATATTCTTGCAAAAAA	0.358000													23	29					0	0	0.069288	0	0
PARP14	54625	broad.mit.edu	37	3	122399742	122399742	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:122399742C>T	ENST00000474629.2	+	1	278	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGCTGTGCCCGGCTCCTTCC	0.632000													7	7					0	0	0.038147	0	0
KIF18B	146909	broad.mit.edu	37	17	43003834	43003834	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43003834G>A	ENST00000587309.1	-	15	2459	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	KIF18B_ENST00000339151.4_Silent_p.A803A|KIF18B_ENST00000593135.1_Silent_p.A800A|KIF18B_ENST00000590129.1_Silent_p.A821A|KIF18B_ENST00000438933.2_Silent_p.A812A	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGGGGAGGCGGGCGATGCGGC	0.617000													4	6					0	0	0.009096	0	0
CCNJL	79616	broad.mit.edu	37	5	159682681	159682681	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:159682681G>A	ENST00000393977.3	-	6	1047	c.762C>T	c.(760-762)gtC>gtT	p.V254V	CCNJL_ENST00000257536.7_Silent_p.V206V|CCNJL_ENST00000541762.1_Silent_p.V205V|CCNJL_ENST00000519673.1_Silent_p.V206V|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	254						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCGCAGCGACCACAGAAG	0.552000													7	48					0	0	0.029380	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161517	151161517	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:151161517A>G	ENST00000367328.1	+	17	3955	c.3643A>G	c.(3643-3645)Agg>Ggg	p.R1215G	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R1215G	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1215					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAGAAGTTCAAGGTGTGAGAG	0.468000													33	19					0	0	0.064281	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184014	19184014	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:19184014G>A	ENST00000375371.3	-	2	315	c.294C>T	c.(292-294)atC>atT	p.I98I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	98					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACACATCCACGATCTCATAGC	0.542000													58	48					0	0	0.048971	0	0
CASR	846	broad.mit.edu	37	3	121981059	121981059	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:121981059C>T	ENST00000498619.1	+	4	1615	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CASR_ENST00000296154.5_Missense_Mutation_p.P393S|CASR_ENST00000490131.1_Missense_Mutation_p.P393S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	393					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCCTTCCGACCCCTCTGTAC	0.493000													25	41					0	0	0.108266	0	0
THOP1	7064	broad.mit.edu	37	19	2808366	2808366	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:2808366C>T	ENST00000307741.6	+	9	1582	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	THOP1_ENST00000586677.1_Missense_Mutation_p.P339L|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	460					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGACGCGCCCTCGCTGCTG	0.682000													4	13					0	0	0.014758	0	0
TSPO2	222642	broad.mit.edu	37	6	41010893	41010893	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:41010893G>T	ENST00000373161.1	+	2	414	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	TSPO2_ENST00000470917.1_Missense_Mutation_p.V57L|TSPO2_ENST00000373158.2_Missense_Mutation_p.V57L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	57					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTACTCTGTCGTGGGGTGAGT	0.498000													29	68					2.42023e-17	2.46458e-17	0.059317	1	0
SGCD	6444	broad.mit.edu	37	5	156074493	156074493	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156074493C>T	ENST00000435422.3	+	6	1006	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SGCD_ENST00000447401.1_Silent_p.F174F|SGCD_ENST00000337851.4_Silent_p.F174F|SGCD_ENST00000517913.1_Silent_p.F174F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACAGTGTTCCCTAAATCTA	0.438000													87	108					0	0	0.048971	0	0
TRRAP	8295	broad.mit.edu	37	7	98609786	98609786	+	Silent	SNP	C	C	T	rs149548740		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98609786C>T	ENST00000359863.4	+	72	11597	c.11388C>T	c.(11386-11388)gcC>gcT	p.A3796A	TRRAP_ENST00000355540.3_Silent_p.A3767A|TRRAP_ENST00000446306.3_Silent_p.A3785A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3796	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCGGCCGCCGGGCAGCCAG	0.577000													29	26					0	0	0.037714	0	0
KMT2C	58508	broad.mit.edu	37	7	151970953	151970953	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151970953C>T	ENST00000355193.2	-	7	1068		c.e7-1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		ATGCACATCGCTGAAAGGGGT	0.393000													4	53					0	0	0.021553	0	0
SYT1	6857	broad.mit.edu	37	12	79747333	79747333	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:79747333G>A	ENST00000261205.4	+	9	1519	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	SYT1_ENST00000457153.2_Missense_Mutation_p.G285S|SYT1_ENST00000393240.3_Missense_Mutation_p.G288S|SYT1_ENST00000552744.1_Missense_Mutation_p.G288S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	288	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|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|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCTACTGCTGGTAAGCTGAC	0.388000													57	82					0	0	0.048971	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186103	12186103	+	Missense_Mutation	SNP	C	C	T	rs140319459		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:12186103C>T	ENST00000263932.2	+	11	1471	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R306W|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	417					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGAATTCGGCAGAGTAA	0.632000													27	91					0	0	0.091800	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348598	140348598	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140348598G>A	ENST00000289269.5	+	1	2779	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		749					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGTAAGGGAAAGGTCCC	0.458000													7	42					0	0	0.029380	0	0
ASXL2	55252	broad.mit.edu	37	2	25965571	25965571	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:25965571G>A	ENST00000435504.4	-	13	3928	c.3635C>T	c.(3634-3636)tCa>tTa	p.S1212L	ASXL2_ENST00000404843.1_Missense_Mutation_p.S695L|ASXL2_ENST00000272341.4_Missense_Mutation_p.S695L|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1184L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGGTCCTGAACTTGTGTC	0.473000													31	40					0	0	0.041601	0	0
DNAH11	8701	broad.mit.edu	37	7	21747425	21747425	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:21747425C>T	ENST00000328843.6	+	41	6707	c.6676C>T	c.(6676-6678)Cat>Tat	p.H2226Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H2219Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2226	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTCATACATCATGCTACCCG	0.383000									Kartagener syndrome				9	39					0	0	0.058154	0	0
ICK	22858	broad.mit.edu	37	6	52878705	52878705	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:52878705G>A	ENST00000356971.3	-	10	1396	c.907C>T	c.(907-909)Cca>Tca	p.P303S	ICK_ENST00000350082.5_Missense_Mutation_p.P303S	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	303					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTTTCTGTGGTTTTTCTGAA	0.498000													19	10					0	0	0.055883	0	0
LPPR5	163404	broad.mit.edu	37	1	99422250	99422250	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:99422250C>T	ENST00000370188.3	-	2	645	c.285G>A	c.(283-285)agG>agA	p.R95R	LPPR5_ENST00000263177.4_Silent_p.R95R	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		95						integral to membrane	hydrolase activity										TTTCAAAATCCCTTGTGGCTA	0.348000													28	12					0	0	0.059317	0	0
MYO15A	51168	broad.mit.edu	37	17	18022891	18022891	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:18022891C>T	ENST00000205890.5	+	2	1115	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	259	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCAGGAACCCTACCTGGCGG	0.652000													17	14					0	0	0.038395	0	0
CES1P1	51716	broad.mit.edu	37	16	55794516	55794516	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:55794516G>A	ENST00000571348.1	+	0	6					NR_003276.2																						GAGCTGCACGGAGACCTCGCA	0.642000													6	5					0	0	0.021553	0	0
MB	4151	broad.mit.edu	37	22	36013287	36013287	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:36013287C>T	ENST00000397326.2	-	1	216	c.18G>A	c.(16-18)ggG>ggA	p.G6G	MB_ENST00000406324.1_Silent_p.G6G|MB_ENST00000359787.1_Silent_p.G6G|MB_ENST00000397328.1_Silent_p.G6G	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	6							heme binding|oxygen transporter activity			lung(1)	1						ACTGCCATTCCCCGTCGCTGA	0.577000													21	49					0	0	0.055883	0	0
TRHDE	29953	broad.mit.edu	37	12	72969286	72969286	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:72969286G>A	ENST00000261180.4	+	12	2246	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	717					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCAGTAACCGAGCGGGCTTG	0.388000													22	31					0	0	0.099896	0	0
NEB	4703	broad.mit.edu	37	2	152394723	152394723	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:152394723C>T	ENST00000397345.3	-	139	21130	c.20928G>A	c.(20926-20928)ggG>ggA	p.G6976G	NEB_ENST00000604864.1_Silent_p.G6976G|NEB_ENST00000172853.10_Silent_p.G5275G|NEB_ENST00000603639.1_Silent_p.G6976G|NEB_ENST00000409198.1_Silent_p.G5275G|NEB_ENST00000427231.2_Silent_p.G6976G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5275					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)		TGTGGTATTTCCCTTTGGTCT	0.343000													53	120					0	0	0.048971	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149768	193149768	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:193149768G>A	ENST00000367434.4	-	2	1680	c.925C>T	c.(925-927)Cct>Tct	p.P309S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	309					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAGAAGACAGGATAACGCTCA	0.418000													17	38					0	0	0.038395	0	0
NLRP4	147945	broad.mit.edu	37	19	56363515	56363515	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56363515C>T	ENST00000301295.6	+	2	491	c.69C>T	c.(67-69)ttC>ttT	p.F23F	NLRP4_ENST00000346986.5_Silent_p.F23F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	23	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGGAGTTCAGGAAATTTA	0.433000													45	77					0	0	0.048971	0	0
RNF220	55182	broad.mit.edu	37	1	44878033	44878033	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:44878033C>T	ENST00000355387.2	+	2	714	c.264C>T	c.(262-264)ttC>ttT	p.F88F	RNF220_ENST00000372247.2_Silent_p.F88F|RNF220_ENST00000361799.2_Silent_p.F88F			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ATCGTGATTTCCCCCCTTCTC	0.512000													203	194					0	0	0.048971	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033438	82033438	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:82033438G>A	ENST00000328945.5	-	3	587	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	154					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACTTTGTCCGAGAGTAGTGA	0.532000													29	48					0	0	0.041601	0	0
ZNF831	128611	broad.mit.edu	37	20	57766864	57766864	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:57766864G>A	ENST00000371030.2	+	1	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	264						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)					TGTGAGGACCGAAGCTGCTCC	0.657000													31	64					0	0	0.041601	0	0
ATP8A1	10396	broad.mit.edu	37	4	42424886	42424886	+	Silent	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:42424886G>C	ENST00000381668.5	-	35	3474	c.3243C>G	c.(3241-3243)gtC>gtG	p.V1081V	ATP8A1_ENST00000264449.10_Silent_p.V1066V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1081					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAACTTCATCGACCAATGTTT	0.358000													42	85					0	0	0.048971	0	0
MUC16	94025	broad.mit.edu	37	19	9066340	9066340	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9066340G>A	ENST00000397910.4	-	3	21309	c.21106C>T	c.(21106-21108)Cct>Tct	p.P7036S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7038	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						GACCCAGAAGGACCTGTTTGA	0.478000													74	112					0	0	0.048971	0	0
FAM65C	140876	broad.mit.edu	37	20	49225194	49225194	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:49225194C>T	ENST00000327979.2	-	10	1165	c.754G>A	c.(754-756)Gag>Aag	p.E252K	FAM65C_ENST00000535356.1_Missense_Mutation_p.E256K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E252K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	252										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGCCTTCTCCTCTTCGTCC	0.642000													35	69					0	0	0.086207	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42103103	42103103	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:42103103C>T	ENST00000457542.2	+	4	515	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P77S|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P77S|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P77S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	77										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTTGTTCAATCCCCGGAAACA	0.562000													27	53					0	0	0.030593	0	0
ITGA11	22801	broad.mit.edu	37	15	68650907	68650907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:68650907C>T	ENST00000423218.2	-	6	584	c.489G>A	c.(487-489)atG>atA	p.M163I	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.M163I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	163					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.M163I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGACGATGTCCATGTAGGTCT	0.502000													11	17					0	0	0.093190	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841646	8841646	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8841646C>T	ENST00000324060.2	+	1	331	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCAGACTTTCTGCGGGGAGA	0.562000													42	45					0	0	0.098360	0	0
SMU1	55234	broad.mit.edu	37	9	33062139	33062139	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:33062139G>A	ENST00000397149.3	-	5	588	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SMU1_ENST00000536631.1_Missense_Mutation_p.P19S	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	180						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GTCATACCAGGAGGAAGCAAT	0.423000													22	50					0	0	0.083992	0	0
FLJ33360	401172	broad.mit.edu	37	5	6312573	6312573	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:6312573G>A	ENST00000507444.1	-	0	399					NR_028351.1																						CTGAGCGGCCGATCCATCTTG	0.587000													10	5					0	0	0.069234	0	0
SLC22A1	6580	broad.mit.edu	37	6	160579578	160579578	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:160579578C>T	ENST00000324965.4	+	10	1516	c.1516C>T	c.(1516-1518)Cct>Tct	p.P506S	SLC22A1_ENST00000457470.2_Silent_p.Y472Y|SLC22A1_ENST00000366963.4_Silent_p.Y543Y			O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	0						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACACGATTTACCTTAAGGTCC	0.393000													21	17					0	0	0.083992	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422470	89422470	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:89422470C>T	ENST00000359595.3	-	4	738	c.524G>A	c.(523-525)gGg>gAg	p.G175E	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G237E	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	175	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTGGTAGCGCCCGTTGGGGGA	0.657000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	28					0	0	0.062417	0	0
KCNU1	157855	broad.mit.edu	37	8	36780013	36780013	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:36780013C>T	ENST00000399881.3	+	24	2639	c.2602C>T	c.(2602-2604)Cct>Tct	p.P868S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	868						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCAGAAAATCCTTCCAACAT	0.458000													17	45					0	0	0.062417	0	0
MUC16	94025	broad.mit.edu	37	19	9085370	9085370	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9085370C>T	ENST00000397910.4	-	1	6648	c.6445G>A	c.(6445-6447)Gcc>Acc	p.A2149T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2149	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						GAAGTTATGGCCATTGGAAGA	0.493000													24	31					0	0	0.091800	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731312	140731312	+	Silent	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140731312G>T	ENST00000523390.1	+	1	1485	c.1485G>T	c.(1483-1485)cgG>cgT	p.R495R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCGGGAGCTGTTGT	0.652000													8	28					0.00448238	0.00450799	0.047766	1	0
GJA10	84694	broad.mit.edu	37	6	90605621	90605621	+	Silent	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:90605621A>C	ENST00000369352.1	+	1	1434	c.1434A>C	c.(1432-1434)acA>acC	p.T478T		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	478					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGCACAGAACATCAATGGTAA	0.493000													42	18					0	0	0.042209	0	0
OR52B4	143496	broad.mit.edu	37	11	4388762	4388762	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4388762C>T	ENST00000408920.2	-	1	854	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCCAGACCCATAAAAGAG	0.493000													26	56					0	0	0.034045	0	0
CHST8	64377	broad.mit.edu	37	19	34263725	34263725	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:34263725C>T	ENST00000262622.3	+	4	1790	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	CHST8_ENST00000434302.1_Silent_p.F344F|CHST8_ENST00000438847.2_Silent_p.F344F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	344					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACTACGATTTCGTAGGCAAGT	0.622000													13	22					0	0	0.020292	0	0
ACAN	176	broad.mit.edu	37	15	89400378	89400378	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:89400378G>A	ENST00000439576.2	+	12	4936	c.4562G>A	c.(4561-4563)gGa>gAa	p.G1521E	ACAN_ENST00000352105.7_Missense_Mutation_p.G1521E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1521E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1521E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1521					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGCTTCTGGAGTAGAGGAC	0.512000													20	28					0	0	0.055883	0	0
DSP	1832	broad.mit.edu	37	6	7580141	7580141	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:7580141G>A	ENST00000379802.3	+	23	4059	c.3718G>A	c.(3718-3720)Gat>Aat	p.D1240N	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1240	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACCAGCTTGATAGACTTTC	0.413000													18	29					0	0	0.038395	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609267	19609267	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:19609267G>A	ENST00000361640.4	-	7	1494	c.954C>T	c.(952-954)gcC>gcT	p.A318A		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAATGCCAGGCTTGATTAA	0.552000													18	41					0	0	0.055883	0	0
ZNF226	7769	broad.mit.edu	37	19	44680499	44680499	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:44680499C>T	ENST00000590089.1	+	7	1451	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	ZNF226_ENST00000337433.5_Missense_Mutation_p.P362S|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.P362S			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGCAGAGAAACCTTATAATTG	0.473000													17	51					0	0	0.049695	0	0
MORC3	23515	broad.mit.edu	37	21	37747572	37747572	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37747572T>C	ENST00000400485.1	+	17	2874	c.2798T>C	c.(2797-2799)aTg>aCg	p.M933T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	933					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTGAACAAATGAGTGAAATC	0.308000													17	25					0	0	0.038395	0	0
TMC3	342125	broad.mit.edu	37	15	81641879	81641879	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:81641879C>T	ENST00000558726.1	-	11	1251	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	TMC3_ENST00000359440.5_Missense_Mutation_p.M371I|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	371						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGGTGCTATCATGGTGACGA	0.572000													7	14					0	0	0.029380	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701714	103701714	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103701714C>T	ENST00000245312.3	-	5	1440	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	282					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACATTGAGCTCCTCAGGAGTG	0.473000													34	44					0	0	0.059317	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347332	135347332	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:135347332G>A	ENST00000463117.2	+	8	1170	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	CYP2E1_ENST00000252945.3_Missense_Mutation_p.G300R|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	300	Substrate binding (Probable).				drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTTCTTTGCGGGGACAGAGAC	0.537000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				37	41					0	0	0.086207	0	0
RNF145	153830	broad.mit.edu	37	5	158585993	158585993	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:158585993G>A	ENST00000424310.2	-	11	2036	c.1677C>T	c.(1675-1677)ggC>ggT	p.G559G	RNF145_ENST00000519865.1_Silent_p.G559G|RNF145_ENST00000521606.2_Silent_p.G576G|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Silent_p.G587G|RNF145_ENST00000518802.1_Silent_p.G589G|RNF145_ENST00000520638.1_Silent_p.G573G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	559						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTAAGACAGCCTGCATGGA	0.453000													4	24					0	0	0.009096	0	0
GABRA2	2555	broad.mit.edu	37	4	46305590	46305590	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46305590C>T	ENST00000510861.1	-	8	916	c.743G>A	c.(742-744)aGa>aAa	p.R248K	GABRA2_ENST00000540012.1_Missense_Mutation_p.R193K|GABRA2_ENST00000507069.1_Missense_Mutation_p.R248K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R248K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R248K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R248K|GABRA2_ENST00000515082.1_Missense_Mutation_p.R248K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	248					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCAATTTTTCTTTTCAGGTG	0.363000													17	39					0	0	0.038395	0	0
C4BPA	722	broad.mit.edu	37	1	207317945	207317945	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207317945C>T	ENST00000367070.3	+	12	1871	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	559					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCAGTGTCTCCCAAACCCAG	0.468000													9	37					0	0	0.047766	0	0
GK2	2712	broad.mit.edu	37	4	80328611	80328611	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:80328611C>T	ENST00000358842.3	-	1	761	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	248					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACACCTTCCAGGGCTCCAG	0.448000													36	73					0	0	0.074837	0	0
GPR84	53831	broad.mit.edu	37	12	54756761	54756761	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:54756761G>A	ENST00000551809.1	-	1	1510	c.875C>T	c.(874-876)cCa>cTa	p.P292L	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P292L|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	292						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGATGCTTCTGGAGGGCTTTT	0.522000													58	92					0	0	0.048971	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007175	32007175	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32007175G>A	ENST00000418967.2	+	4	648	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E134K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	163					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CATTGAGGAGGAATTCTCTCT	0.632000													89	334					0	0	0.048971	0	0
ANKRD35	148741	broad.mit.edu	37	1	145566692	145566692	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:145566692G>A	ENST00000355594.4	+	11	2881	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	932										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAGATCAAGGAGTTGTTGAA	0.478000													14	28					0	0	0.105934	0	0
ATAD2B	54454	broad.mit.edu	37	2	24021069	24021069	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:24021069G>A	ENST00000238789.5	-	19	2922	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	860							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGAAAATGATGGTATATC	0.358000													8	16					0	0	0.038147	0	0
GANAB	23193	broad.mit.edu	37	11	62397359	62397359	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62397359G>A	ENST00000346178.4	-	15	1745	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	GANAB_ENST00000540933.1_Missense_Mutation_p.T458I|GANAB_ENST00000356638.3_Missense_Mutation_p.T555I|GANAB_ENST00000534779.1_Missense_Mutation_p.T463I	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	555					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTTGAGCATGGTGACCTCAGG	0.532000													42	52					0	0	0.045515	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731925	140731925	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140731925C>T	ENST00000523390.1	+	1	2098	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCTCTTTCTCCTCGCGGT	0.607000													67	67					0	0	0.048971	0	0
WASF3	10810	broad.mit.edu	37	13	27241696	27241696	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:27241696C>T	ENST00000361042.4	+	5	536	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.S104F			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	104					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCAAAAGTTCCACAGTCCAA	0.373000													20	38					0	0	0.055883	0	0
OR2A25	392138	broad.mit.edu	37	7	143771362	143771362	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:143771362C>T	ENST00000408898.2	+	1	88	c.50C>T	c.(49-51)cCc>cTc	p.P17L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTGGGATTTCCCATTGGCCCA	0.493000													31	101					0	0	0.045705	0	0
MUC16	94025	broad.mit.edu	37	19	8966742	8966742	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8966742C>T	ENST00000397910.4	-	81	43414	c.43211G>A	c.(43210-43212)aGa>aAa	p.R14404K	MUC16_ENST00000380951.5_Missense_Mutation_p.R1045K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14502				Missing (in Ref. 3; AAK74120).	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						GATGGCAACTCTGTCTACTCT	0.557000													4	7					0	0	0.009096	0	0
SCN1A	6323	broad.mit.edu	37	2	166929999	166929999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:166929999C>T	ENST00000423058.2	-	1	150	c.133G>A	c.(133-135)Gac>Aac	p.D45N	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D45N|SCN1A_ENST00000375405.3_Missense_Mutation_p.D45N|SCN1A_ENST00000303395.4_Missense_Mutation_p.D45N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	45						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)	CCATTTTCGTCGTCATCTTTT	0.443000													45	131					0	0	0.048971	0	0
TIPARP	25976	broad.mit.edu	37	3	156395964	156395964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:156395964C>T	ENST00000461166.1	+	2	1066	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	TIPARP_ENST00000295924.7_Nonsense_Mutation_p.Q160*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.Q160*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.Q160*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	160							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCTCACTTCCAGACTGATCT	0.463000													33	62					0	0	0.041601	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708970	96708970	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:96708970G>A	ENST00000260682.6	+	5	760	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	250					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)	AAAAGTAAAAGAACACCAAGA	0.313000													8	34					0	0	0.038147	0	0
TRRAP	8295	broad.mit.edu	37	7	98567828	98567828	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:98567828G>A	ENST00000359863.4	+	51	7794	c.7585G>A	c.(7585-7587)Gat>Aat	p.D2529N	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2511N|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2511N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2529					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACCTGGCCGATAGCCACGA	0.627000													28	88					0	0	0.041601	0	0
PRODH2	58510	broad.mit.edu	37	19	36297475	36297475	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36297475C>T	ENST00000301175.3	-	8	1103	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	362					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)			CCTCTGCATCCCTCCCCAGCC	0.632000													33	70					0	0	0.074837	0	0
SCARA5	286133	broad.mit.edu	37	8	27737091	27737091	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:27737091C>T	ENST00000354914.3	-	8	1831	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	SCARA5_ENST00000380385.2_Missense_Mutation_p.G224E	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	449	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTTACCTTGCCCGAATCGAGC	0.607000													21	54					0	0	0.062417	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876130	139876130	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:139876130C>T	ENST00000297183.6	+	15	2395	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S757S|ANKHD1_ENST00000360839.2_Silent_p.S757S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCAGTTCCCTCCAGGTAG	0.398000													23	25					0	0	0.108266	0	0
INHBA	3624	broad.mit.edu	37	7	41729272	41729272	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:41729272G>A	ENST00000242208.4	-	3	1503	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.I419I	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	419					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I419I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCCTCCACGATCATGTTCT	0.468000										TSP Lung(11;0.080)			47	44					0	0	0.048971	0	0
DNAH5	1767	broad.mit.edu	37	5	13864545	13864545	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13864545G>A	ENST00000265104.4	-	28	4661	c.4557C>T	c.(4555-4557)atC>atT	p.I1519I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1519	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)					GTGCCTCCATGATATTTCTTA	0.428000									Kartagener syndrome				16	47					0	0	0.024245	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876129	139876129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:139876129C>T	ENST00000297183.6	+	15	2394	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S757F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S757F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTCCAGTTCCCTCCAGGTA	0.393000													24	25					0	0	0.030593	0	0
DNAH7	56171	broad.mit.edu	37	2	196664178	196664178	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:196664178C>T	ENST00000312428.6	-	55	10295	c.10195G>A	c.(10195-10197)Gaa>Aaa	p.E3399K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3399	AAA 6 (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						ATTATAAATTCCTGCAACATT	0.363000													33	85					0	0	0.069456	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748500	43748500	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:43748500G>A	ENST00000263801.3	-	12	2543	c.2291C>T	c.(2290-2292)cCa>cTa	p.P764L	TP53BP1_ENST00000382039.3_Missense_Mutation_p.P769L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P769L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P769L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	764					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGGGAGATGGCTCTTTCAC	0.448000								Other conserved DNA damage response genes					27	28					0	0	0.108266	0	0
EMR3	84658	broad.mit.edu	37	19	14749142	14749142	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:14749142G>A	ENST00000253673.5	-	11	1359	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	EMR3_ENST00000599900.1_Missense_Mutation_p.S205F|EMR3_ENST00000443157.2_Missense_Mutation_p.S294F|EMR3_ENST00000344373.4_Missense_Mutation_p.S368F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	420					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGCGATGATGGAGCACAGCAC	0.587000													16	25					0	0	0.033300	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188116	140188116	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140188116G>A	ENST00000530339.1	+	1	1344	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	PCDHA4_ENST00000356878.4_Silent_p.V448V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V448V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTGATGTGAACGACAACG	0.642000													5	52					0	0	0.014758	0	0
DNAH7	56171	broad.mit.edu	37	2	196759894	196759894	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:196759894C>T	ENST00000312428.6	-	30	4802	c.4702G>A	c.(4702-4704)Gat>Aat	p.D1568N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					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						GCCAGCAAATCATTGTAATCT	0.323000													10	27					0	0	0.080935	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654341	61654341	+	Silent	SNP	C	C	T	rs146858814		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:61654341C>T	ENST00000397985.2	+	7	1210	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SERPINB8_ENST00000542677.1_Silent_p.F136F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Silent_p.F318F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	318					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ACAAGTGCTTCGTGGAGGTCA	0.527000													13	25					0	0	0.093190	0	0
CCDC57	284001	broad.mit.edu	37	17	80151902	80151902	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:80151902G>A	ENST00000392347.1	-	5	768	c.732C>T	c.(730-732)agC>agT	p.S244S	CCDC57_ENST00000389641.4_Silent_p.S244S|CCDC57_ENST00000392343.3_Silent_p.S244S	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	244										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCCCGGCTCGGCTCTGGAGCT	0.672000													27	23					0	0	0.091800	0	0
WNK3	65267	broad.mit.edu	37	X	54264844	54264844	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:54264844G>A	ENST00000354646.2	-	19	4383	c.3945C>T	c.(3943-3945)tcC>tcT	p.S1315S	WNK3_ENST00000375159.2_Silent_p.S1315S|WNK3_ENST00000375169.3_Silent_p.S1268S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1268					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATCAGCTGTGGACTCCCGTG	0.423000													16	5					0	0	0.024245	0	0
KDM5D	8284	broad.mit.edu	37	Y	21871433	21871433	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrY:21871433G>A	ENST00000541639.1	-	21	3226	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	KDM5D_ENST00000317961.4_Missense_Mutation_p.S949F|KDM5D_ENST00000382806.2_Missense_Mutation_p.S892F	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	949					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGAAGGGCTGGAGGCTATCTT	0.577000													18	4					0	0	0.049695	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357402	36357402	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:36357402C>T	ENST00000347900.6	+	15	1926	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	KIRREL2_ENST00000360202.5_3'UTR|KIRREL2_ENST00000592409.1_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000262625.7_Silent_p.F622F|KIRREL2_ENST00000586102.2_3'UTR	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TGACATCTTTCCAATGGAAGA	0.552000													43	67					0	0	0.048971	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.T379T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000													9	9					0	0	0.069234	0	0
FAT2	2196	broad.mit.edu	37	5	150946321	150946321	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:150946321G>A	ENST00000261800.5	-	1	2184	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	724	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCTCAAGGACATCAATGG	0.483000													59	57					0	0	0.048971	0	0
CDCA2	157313	broad.mit.edu	37	8	25364179	25364179	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:25364179C>T	ENST00000330560.3	+	15	2474	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	CDCA2_ENST00000380665.3_Missense_Mutation_p.S651F|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	666					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATAAAAAGTTCCTCATCGCTT	0.313000													26	43					0	0	0.034045	0	0
FADS3	3995	broad.mit.edu	37	11	61646941	61646941	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:61646941G>A	ENST00000540820.1	-	3	437	c.365C>T	c.(364-366)gCc>gTc	p.A122V	FADS3_ENST00000527697.1_5'UTR|FADS3_ENST00000525588.1_Missense_Mutation_p.A122V|FADS3_ENST00000278829.2_Missense_Mutation_p.A122V			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	122					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATGTCCTCGGCTGCCTGGTG	0.597000													8	9					0	0	0.047766	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041341	42041341	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:42041341A>G	ENST00000372584.1	-	4	6095	c.5081T>C	c.(5080-5082)gTt>gCt	p.V1694A	HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1694A|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1694A|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1694A|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1694					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCCGGGGAAACCAGTGAAGG	0.542000													21	67					0	0	0.062417	0	0
LCMT1	51451	broad.mit.edu	37	16	25172472	25172472	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:25172472C>T	ENST00000399069.3	+	6	671	c.516C>T	c.(514-516)ctC>ctT	p.L172L	LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	172	S-adenosyl-L-methionine binding.						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCAGATCTCCGAGACCTGT	0.353000													6	18					0	0	0.029380	0	0
SSBP3	23648	broad.mit.edu	37	1	54706582	54706582	+	Silent	SNP	G	G	A	rs142992203		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:54706582G>A	ENST00000371320.3	-	13	1262	c.852C>T	c.(850-852)ccC>ccT	p.P284P	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000371319.3_Silent_p.P257P|SSBP3_ENST00000417664.2_Silent_p.P174P|SSBP3_ENST00000357475.4_Silent_p.P264P	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	284	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTTACCTGCGGGACTGGGCA	0.592000													42	118					0	0	0.048971	0	0
TLL2	7093	broad.mit.edu	37	10	98129906	98129906	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:98129906C>T	ENST00000357947.3	-	20	3054	c.2829G>A	c.(2827-2829)gaG>gaA	p.E943E		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	943	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCAGTCGGCCTCCTCCTCAA	0.637000													23	29					0	0	0.069288	0	0
IGSF9	57549	broad.mit.edu	37	1	159898380	159898380	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:159898380C>T	ENST00000368094.1	-	19	2995	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R917Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	933	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCATCTCTCGGAAGAAGGG	0.627000													4	6					0	0	0.009096	0	0
CLSPN	63967	broad.mit.edu	37	1	36209113	36209113	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:36209113C>T	ENST00000251195.5	-	17	3081	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	CLSPN_ENST00000520551.1_Silent_p.E942E|CLSPN_ENST00000373220.3_Silent_p.E931E|CLSPN_ENST00000318121.3_Silent_p.E995E|RP11-435D7.3_ENST00000373226.2_RNA			Q9HAW4	CLSPN_HUMAN	claspin	995					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAATTCCTCCTCCTCGTCTT	0.343000													25	67					0	0	0.099896	0	0
NPSR1	387129	broad.mit.edu	37	7	34884512	34884512	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:34884512G>A	ENST00000360581.1	+	7	890	c.762G>A	c.(760-762)ggG>ggA	p.G254G	NPSR1_ENST00000359791.1_Silent_p.G254G|NPSR1_ENST00000381542.1_Silent_p.G188G|NPSR1_ENST00000531252.1_Silent_p.G243G|NPSR1_ENST00000381539.3_Silent_p.G254G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	254						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)	CTACAGATGGGAAACTGTGCA	0.403000													38	37					0	0	0.104719	0	0
DNAH2	146754	broad.mit.edu	37	17	7669791	7669791	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:7669791C>T	ENST00000572933.1	+	22	5127	c.3667C>T	c.(3667-3669)Ctg>Ttg	p.L1223L	DNAH2_ENST00000389173.2_Silent_p.L1223L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1223	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCAGAACCTGGAGAAGGT	0.587000													11	9					0	0	0.093190	0	0
IGHG3	3502	broad.mit.edu	37	14	106236286	106236286	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:106236286G>A	ENST00000390551.2	-	0	517																											GTTTTGGGGGGAAGAGGAAGA	0.597000													36	15					0	0	0.059317	0	0
NXNL1	115861	broad.mit.edu	37	19	17571379	17571379	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:17571379G>A	ENST00000301944.2	-	1	384	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CTD-2521M24.10_ENST00000594663.1_Silent_p.F7F	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	100	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CAAAGGGCAGGAAAAGCCATT	0.577000													18	26					0	0	0.043863	0	0
MED12L	116931	broad.mit.edu	37	3	150911323	150911323	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:150911323C>T	ENST00000474524.1	+	14	2053	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	MED12L_ENST00000273432.4_Missense_Mutation_p.S532L|MED12L_ENST00000422248.2_Missense_Mutation_p.S672L|MED12L_ENST00000309237.4_Missense_Mutation_p.S707L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	672					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAACACTTCGTTGGGCAGA	0.388000													10	32					0	0	0.069234	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722742	145722742	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:145722742G>A	ENST00000292539.4	+	2	1082	c.165G>A	c.(163-165)cgG>cgA	p.R55R	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000529009.1_3'UTR|PPP1R16A_ENST00000435887.1_Silent_p.R55R			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	55				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGTCCCCGGAAGGAGGCAG	0.647000													14	24					0	0	0.024245	0	0
PLCD3	113026	broad.mit.edu	37	17	43196356	43196356	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:43196356G>A	ENST00000322765.5	-	5	852	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	247	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCCGCCGCAGGAACTCCTCG	0.627000													8	11					0	0	0.038147	0	0
DZIP1	22873	broad.mit.edu	37	13	96246218	96246218	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:96246218C>T	ENST00000347108.3	-	14	2092	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	DZIP1_ENST00000376829.2_Missense_Mutation_p.E554K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E535K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E535K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	554					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCCAAGGTTTCCAGTTTCTCC	0.348000													31	52					0	0	0.074837	0	0
KRBA1	84626	broad.mit.edu	37	7	149419937	149419937	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:149419937C>T	ENST00000255992.10	+	7	1061	c.662C>T	c.(661-663)cCt>cTt	p.P221L	KRBA1_ENST00000485033.2_Missense_Mutation_p.P221L|KRBA1_ENST00000319551.8_Missense_Mutation_p.P221L|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	221										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCTTGTGCCTGGGCCCCGG	0.622000													25	68					0	0	0.099896	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173182	173182	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:173182G>A	ENST00000283426.6	+	15	3203	c.3153_splice	c.e15+1	p.K1051_splice		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1051	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCCTTCAAGGTAGCACCCG	0.597000													14	29					0	0	0.038395	0	0
CPNE9	151835	broad.mit.edu	37	3	9771352	9771352	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:9771352G>A	ENST00000383832.3	+	21	1828	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	546										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ACCCCAGCCCGATCCCAGCTC	0.617000													13	19					0	0	0.028581	0	0
ATE1	11101	broad.mit.edu	37	10	123670484	123670484	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:123670484C>T	ENST00000369043.3	-	5	606	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ATE1_ENST00000369040.3_Missense_Mutation_p.G78R|ATE1_ENST00000543447.1_Missense_Mutation_p.G59R|ATE1_ENST00000224652.6_Missense_Mutation_p.G174R|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.G167R	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	174					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AACTTCTCTCCTACGAAATCT	0.388000													34	34					0	0	0.054565	0	0
RAB18	22931	broad.mit.edu	37	10	27822666	27822666	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:27822666T>C	ENST00000356940.6	+	5	364	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Missense_Mutation_p.Y43H	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	88					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TATTTCAGTTTATGATGTCAC	0.303000													23	34					0	0	0.030593	0	0
TRANK1	9881	broad.mit.edu	37	3	36873951	36873951	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:36873951C>T	ENST00000301807.6	-	21	7238	c.5341G>A	c.(5341-5343)Ggg>Agg	p.G1781R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1781R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2331R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2331					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCCTCTCCCCCTGCCCCTT	0.502000													47	70					0	0	0.048971	0	0
RGS10	6001	broad.mit.edu	37	10	121275051	121275051	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:121275051G>A	ENST00000392865.1	-	4	389	c.327C>T	c.(325-327)caC>caT	p.H109H	RGS10_ENST00000369103.2_Silent_p.H123H|RGS10_ENST00000369101.3_Silent_p.H115H|RGS10_ENST00000469575.1_Intron	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	115	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H123Q(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACATCAGAGGGTGCGGTTCTT	0.507000													14	18					0	0	0.020292	0	0
MARCO	8685	broad.mit.edu	37	2	119748183	119748183	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:119748183G>A	ENST00000541757.1	+	14	1228	c.848G>A	c.(847-849)gGa>gAa	p.G283E	MARCO_ENST00000327097.4_Missense_Mutation_p.G361E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	361	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGACAGCAAGGAAGAAAAGGA	0.468000													25	38					0	0	0.108266	0	0
KRTDAP	388533	broad.mit.edu	37	19	35978362	35978362	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:35978362C>T	ENST00000338897.3	-	6	356	c.268G>A	c.(268-270)Gga>Aga	p.G90R	KRTDAP_ENST00000484218.2_Missense_Mutation_p.G76R|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	90					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCTCAGTCCTTTCAGCTAG	0.552000													31	69					0	0	0.041601	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580900	140580900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140580900C>T	ENST00000354757.3	+	1	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S153L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.677000													16	79					0	0	0.024245	0	0
AHNAK	79026	broad.mit.edu	37	11	62300532	62300532	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:62300532C>A	ENST00000378024.4	-	5	1631	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	453					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCAGTGTCACATCAATCCCA	0.517000													37	52					1.69901e-12	1.72349e-12	0.080422	1	0
SVEP1	79987	broad.mit.edu	37	9	113197561	113197561	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:113197561C>T	ENST00000401783.2	-	29	5184	c.4848G>A	c.(4846-4848)gtG>gtA	p.V1616V	SVEP1_ENST00000374469.1_Silent_p.V1593V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1616	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACTTTCCCCACAATTCCTG	0.438000													38	41					0	0	0.069456	0	0
INPP5D	3635	broad.mit.edu	37	2	234077951	234077951	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234077951G>A	ENST00000359570.5	+	16	1520	c.1519_splice	c.e16-1	p.G507_splice	INPP5D_ENST00000450745.1_Splice_Site_p.G271_splice|INPP5D_ENST00000538935.1_Splice_Site_p.G506_splice|INPP5D_ENST00000455936.2_Splice_Site_p.G271_splice			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	519					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCTTTTTAGGGAACAAGGGA	0.483000													3	18					0	0	0.004672	0	0
DCAF4	26094	broad.mit.edu	37	14	73409708	73409708	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:73409708C>T	ENST00000553457.1	+	5	428	c.138C>T	c.(136-138)gcC>gcT	p.A46A	DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Silent_p.A46A|DCAF4_ENST00000358377.2_Silent_p.A146A|DCAF4_ENST00000555042.1_Silent_p.A146A|DCAF4_ENST00000353777.3_Intron			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	146						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTTTAGCCCACGAGCTGC	0.567000													6	7					0	0	0.021553	0	0
FCGBP	8857	broad.mit.edu	37	19	40405948	40405948	+	Missense_Mutation	SNP	G	G	C	rs139504445		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:40405948G>C	ENST00000221347.6	-	10	4905	c.4898C>G	c.(4897-4899)tCc>tGc	p.S1633C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1633	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATGCCTCCGGAGGGCTGGCA	0.632000													3	37					0	0	0.009096	0	0
DOCK11	139818	broad.mit.edu	37	X	117744240	117744240	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:117744240C>T	ENST00000276204.6	+	28	3029	c.2955C>T	c.(2953-2955)ccC>ccT	p.P985P	DOCK11_ENST00000276202.7_Silent_p.P985P			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	985					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAGCTTCCCCGAGGCCAGA	0.383000													15	6					0	0	0.028581	0	0
KDR	3791	broad.mit.edu	37	4	55948165	55948165	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:55948165A>T	ENST00000263923.4	-	29	4101	c.3806T>A	c.(3805-3807)cTg>cAg	p.L1269Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1269					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGTTTTCAGCTCTTCTGA	0.363000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			23	58					0	0	0.091800	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716805	151716805	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151716805G>A	ENST00000392800.2	+	9	1505	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	GALNTL5_ENST00000431418.2_Silent_p.R417R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	417						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)		TTGAGTTAAGGAAACGACTGG	0.413000													43	30					0	0	0.048971	0	0
BEST3	144453	broad.mit.edu	37	12	70088210	70088210	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:70088210C>T	ENST00000330891.5	-	3	413	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	BEST3_ENST00000553096.1_Intron|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.E63K|BEST3_ENST00000476098.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	63						chloride channel complex|plasma membrane	chloride channel activity	p.E63Q(1)		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)			GATAATTTTTCAAAGTAACGT	0.378000													8	14					0	0	0.038147	0	0
TNPO1	3842	broad.mit.edu	37	5	72189461	72189461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:72189461C>T	ENST00000337273.5	+	18	2500	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R642*|TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R684*|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R642*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	692					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCCAGAAGTTCGACAGAGTTC	0.378000													39	56					0	0	0.045515	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138433924	138433924	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:138433924C>T	ENST00000310018.2	-	12	1450	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E390K|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E390K	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	390					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.E390K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGTTTATCTCCCGGTAGCTG	0.478000													96	73					0	0	0.048971	0	0
MRPL19	9801	broad.mit.edu	37	2	75879379	75879379	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:75879379C>G	ENST00000393909.2	+	3	358	c.333C>G	c.(331-333)ttC>ttG	p.F111L	MRPL19_ENST00000358788.6_Missense_Mutation_p.F111L|MRPL19_ENST00000409374.1_Missense_Mutation_p.F111L	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	111					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTCCAGAGTTCTATGTTGGTC	0.333000													23	48					0	0	0.091800	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248343781C>T	ENST00000359682.2	+	1	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000													157	143					0	0	0.048971	0	0
KAT6A	7994	broad.mit.edu	37	8	41791730	41791730	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:41791730G>A	ENST00000396930.3	-	18	4551	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	KAT6A_ENST00000265713.2_Silent_p.P1336P|KAT6A_ENST00000406337.1_Silent_p.P1336P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1336					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTTCCCTCGTGGGCTGTTCCT	0.483000													45	96					0	0	0.048971	0	0
CACNA1A	773	broad.mit.edu	37	19	13340994	13340994	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:13340994C>T	ENST00000360228.5	-	36	5429	c.5430G>A	c.(5428-5430)atG>atA	p.M1810I	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.M1811I	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	1811			I -> L (in FHM1; dbSNP:rs121908214).		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)	CAAAGTTGTCCATGATGACGG	0.582000													6	27					0	0	0.038147	0	0
OR1D4	653166	broad.mit.edu	37	17	3144488	3144488	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:3144488G>A	ENST00000531680.1	+	0	519					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		GGCCTTGAGAGATCCACTACC	0.532000													10	2					0	0	0.080935	0	0
HYAL4	23553	broad.mit.edu	37	7	123517118	123517118	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:123517118C>T	ENST00000223026.4	+	5	1993	c.1355C>T	c.(1354-1356)gCt>gTt	p.A452V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A452V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	452					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATAAAGACGGCTGATGGCTGC	0.433000													28	112					0	0	0.108266	0	0
PPARA	5465	broad.mit.edu	37	22	46628087	46628087	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:46628087G>A	ENST00000396000.2	+	7	1375	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	PPARA_ENST00000407236.1_Silent_p.L370L|PPARA_ENST00000402126.1_Silent_p.L370L|PPARA_ENST00000262735.5_Silent_p.L370L|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	370	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CACTGGAACTGGATGACAGTG	0.428000													55	79					0	0	0.048971	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091222	143091222	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:143091222G>A	ENST00000367603.2	-	5	5396	c.4654C>T	c.(4654-4656)Ccg>Tcg	p.P1552S	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1552S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1552S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1552	Ser-rich.				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)		TTCTGCCCCGGAAGTGGTGCC	0.542000													23	9					0	0	0.099896	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	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				32	35					0	0	0.059317	0	0
MS4A10	341116	broad.mit.edu	37	11	60559752	60559752	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:60559752G>A	ENST00000308287.1	+	4	414	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	106						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TCATTTCAGGGATCTTGGCGA	0.448000													46	69					0	0	0.048971	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162917	33162917	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:33162917C>T	ENST00000510327.1	-	0	346																											CAAATAAATCCTTGTTTTGTC	0.423000													5	7					0	0	0.014758	0	0
OR6C70	390327	broad.mit.edu	37	12	55863067	55863067	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:55863067A>T	ENST00000327335.4	-	1	855	c.856T>A	c.(856-858)Ttt>Att	p.F286I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GTATAAATAAATGGGTTTAAC	0.343000													22	35					0	0	0.055883	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924005	105924005	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:105924005G>A	ENST00000526793.1	-	3	1570	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S	KBTBD3_ENST00000531837.1_Missense_Mutation_p.P471S|KBTBD3_ENST00000534815.1_Missense_Mutation_p.P392S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	467										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCAAGTGATGGGTTAAAAGCA	0.368000													12	19					0	0	0.080935	0	0
MXRA5	25878	broad.mit.edu	37	X	3229592	3229592	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3229592C>T	ENST00000217939.6	-	7	6806	c.6652G>A	c.(6652-6654)Gat>Aat	p.D2218N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2218	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACAGGTAATCTCCGGCATCT	0.453000													24	7					0	0	0.108266	0	0
CHST11	50515	broad.mit.edu	37	12	104851282	104851282	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104851282C>G	ENST00000303694.5	+	1	532	c.93C>G	c.(91-93)ttC>ttG	p.F31L	CHST11_ENST00000547956.1_Missense_Mutation_p.F31L|CHST11_ENST00000546689.1_Missense_Mutation_p.F31L|CHST11_ENST00000549260.1_Missense_Mutation_p.F31L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	31					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGGTCATCTTCTATTTCCAAA	0.512000													30	66					0	0	0.064281	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028112	44028112	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:44028112G>A	ENST00000262726.7	-	19	2358	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P550L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCTCTCATTGGAGGATCTGG	0.448000													43	82					0	0	0.042209	0	0
ANK3	288	broad.mit.edu	37	10	61831470	61831470	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:61831470C>T	ENST00000280772.1	-	37	9360	c.9169G>A	c.(9169-9171)Gga>Aga	p.G3057R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3057					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATTCCTTTCCTGGGCTAAAC	0.468000													74	65					0	0	0.048971	0	0
DLL3	10683	broad.mit.edu	37	19	39994874	39994874	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:39994874C>T	ENST00000205143.4	+	5	823	c.816C>T	c.(814-816)gtC>gtT	p.V272V	DLL3_ENST00000356433.5_Silent_p.V272V	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	272					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGCCTTGTCCCTGGGCCTG	0.642000													25	41					0	0	0.091800	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535604	110535604	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:110535604C>T	ENST00000378402.5	+	76	12577	c.12473C>T	c.(12472-12474)cCc>cTc	p.P4158L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4158					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCTTACTCCCCTTAGAACA	0.393000										HNSCC(38;0.096)			33	90					0	0	0.069456	0	0
DOCK6	57572	broad.mit.edu	37	19	11326104	11326104	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:11326104C>T	ENST00000294618.7	-	32	4076	c.4065G>A	c.(4063-4065)aaG>aaA	p.K1355K	DOCK6_ENST00000319867.7_Silent_p.K694K|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1355					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GTGTGACGCTCTTCCGCCAGC	0.582000													7	20					0	0	0.047766	0	0
ZNF862	643641	broad.mit.edu	37	7	149558490	149558490	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:149558490C>T	ENST00000223210.4	+	7	2486	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	747					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAGTGTGACCGGCACATCC	0.617000													18	58					0	0	0.049695	0	0
METTL8	79828	broad.mit.edu	37	2	172195767	172195767	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:172195767G>A	ENST00000375258.3	-	4	748	c.533C>T	c.(532-534)tCt>tTt	p.S178F				B3KW44	B3KW44_HUMAN	methyltransferase like 8	178							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GTGTTTTTCAGAGTCTAGGTT	0.398000													45	74					0	0	0.048971	0	0
ASB17	127247	broad.mit.edu	37	1	76397745	76397745	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:76397745C>T	ENST00000284142.6	-	1	371	c.232G>A	c.(232-234)Gga>Aga	p.G78R		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	78					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AAACGGTATCCTGATTTTTCC	0.378000													60	15					0	0	0.048971	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:109522810C>T	ENST00000409271.1	-	11	1517	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_ENST00000376651.1_Silent_p.R358R|EDAR_ENST00000258443.2_Silent_p.R326R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	326	Death.		R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGATCTTTTTCCTCCGGCTTT	0.507000													31	41					0	0	0.069456	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024659	45024659	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45024659G>A	ENST00000454753.1	-	0	1157							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGCAGGAGGGGCTGGCCAC	0.567000													147	310					0	0	0.048971	0	0
COL14A1	7373	broad.mit.edu	37	8	121228683	121228683	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:121228683G>A	ENST00000297848.3	+	14	1961	c.1691G>A	c.(1690-1692)gGt>gAt	p.G564D	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G469D|COL14A1_ENST00000309791.4_Missense_Mutation_p.G564D|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	564	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGATCAATGGTTATCGAATT	0.403000													38	41					0	0	0.080422	0	0
OR1N2	138882	broad.mit.edu	37	9	125315812	125315812	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125315812C>T	ENST00000373688.2	+	1	422	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATATTTCCTCCTTATGTTTGG	0.493000													62	92					0	0	0.048971	0	0
HJURP	55355	broad.mit.edu	37	2	234749390	234749390	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234749390G>A	ENST00000411486.2	-	8	2101	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	HJURP_ENST00000432087.1_Missense_Mutation_p.P625L|HJURP_ENST00000441687.1_Missense_Mutation_p.P594L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	679					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCTTTTTGCAGGGAACTGATG	0.572000													33	53					0	0	0.050027	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036995	48036995	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:48036995C>T	ENST00000295461.5	+	5	625	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	187						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GATGGTTATCCATGCCCCACA	0.393000													11	33					0	0	0.080935	0	0
DCC	1630	broad.mit.edu	37	18	50705383	50705383	+	Silent	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:50705383A>T	ENST00000442544.2	+	9	2086	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	DCC_ENST00000412726.1_Silent_p.G338G|DCC_ENST00000581580.1_Silent_p.G145G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCACTGTGGGAAACCTGAAGC	0.483000													16	37					0	0	0.043863	0	0
SLC5A6	8884	broad.mit.edu	37	2	27424861	27424861	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27424861G>A	ENST00000310574.3	-	13	1830	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	SLC5A6_ENST00000408041.1_Missense_Mutation_p.P453S|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	453					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTCACAGGAGGGTTAGCACAT	0.572000													27	35					0	0	0.030593	0	0
RANGAP1	5905	broad.mit.edu	37	22	41660835	41660835	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:41660835C>T	ENST00000455915.2	-	4	1782	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RANGAP1_ENST00000405486.1_Missense_Mutation_p.E105K|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E95K|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E105K			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	105					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAGTCCTTCCCCTAGTGAG	0.597000													24	55					0	0	0.108266	0	0
FMO3	2328	broad.mit.edu	37	1	171077319	171077319	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:171077319C>T	ENST00000367755.4	+	5	695	c.584C>T	c.(583-585)tCg>tTg	p.S195L	FMO3_ENST00000392085.2_Missense_Mutation_p.S195L|FMO3_ENST00000542847.1_Missense_Mutation_p.S175L|FMO3_ENST00000538429.1_Missense_Mutation_p.S132L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	195					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S195L(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGGGAATTCGGGCTGTGAT	0.498000													15	58					0	0	0.033300	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557000													18	41					0	0	0.055883	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744239	140744239	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140744239G>A	ENST00000518069.1	+	1	342	c.342G>A	c.(340-342)atG>atA	p.M114I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAAAATGAAAATTTATG	0.448000													14	13					0	0	0.105934	0	0
ZNF347	84671	broad.mit.edu	37	19	53644232	53644232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53644232G>A	ENST00000452676.2	-	5	2278	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R617*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R618*|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAATTCGCTGATGCCTT	0.398000													29	43					0	0	0.030593	0	0
C4BPA	722	broad.mit.edu	37	1	207297306	207297306	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:207297306C>T	ENST00000367070.3	+	5	662	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	156	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTGTGAAGTCCAAGATAGAG	0.348000													10	4					0	0	0.080935	0	0
WDR65	149465	broad.mit.edu	37	1	43649360	43649360	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:43649360C>T	ENST00000372492.4	+	4	897	c.573C>T	c.(571-573)agC>agT	p.S191S	WDR65_ENST00000528956.1_Silent_p.S191S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	191										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAAACCAGCTTTCAGAGGG	0.488000													30	81					0	0	0.041601	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599747	136599747	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:136599747C>T	ENST00000531224.1	-	4	524	c.272G>A	c.(271-273)gGt>gAt	p.G91D	BCLAF1_ENST00000392348.2_Missense_Mutation_p.G89D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G89D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G91D|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G91D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G89D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	91					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATAACCACCTCGATGATA	0.463000													28	79					0	0	0.037714	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536047	69536047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:69536047C>T	ENST00000338206.5	-	1	299	c.290G>A	c.(289-291)tGg>tAg	p.W97*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	97					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACCATATATCCATCTATCGAG	0.284000													43	60					0	0	0.104719	0	0
DIP2B	57609	broad.mit.edu	37	12	51126160	51126160	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:51126160C>T	ENST00000301180.5	+	32	3856	c.3822C>T	c.(3820-3822)atC>atT	p.I1274I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1274						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCAGAGGGATCAACCTCTCCT	0.542000													28	59					0	0	0.041601	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712008	94712008	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:94712008G>A	ENST00000304338.3	+	13	1582		c.e13+1			NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4							cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGAAAATAAGGTAAACTTCAT	0.338000													31	21					0	0	0.050027	0	0
P4HA3	283208	broad.mit.edu	37	11	74009327	74009327	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:74009327C>T	ENST00000331597.4	-	4	692	c.647G>A	c.(646-648)gGa>gAa	p.G216E	P4HA3_ENST00000427714.2_Missense_Mutation_p.G216E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	216						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTTCCACTCTCCGTAAGATCC	0.493000													42	87					0	0	0.098360	0	0
OR51M1	390059	broad.mit.edu	37	11	5411147	5411147	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:5411147C>T	ENST00000328611.3	+	1	541	c.519C>T	c.(517-519)ctC>ctT	p.L173L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	173						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATTGTCCTCCTCCTGAAGG	0.527000													92	117					0	0	0.048971	0	0
CCDC88A	55704	broad.mit.edu	37	2	55543249	55543249	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:55543249G>A	ENST00000436346.1	-	22	4589	c.3746_splice	c.e22-1	p.L1250_splice	CCDC88A_ENST00000413716.2_Splice_Site_p.L1249_splice|CCDC88A_ENST00000263630.8_Splice_Site_p.L1250_splice|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Splice_Site_p.L1249_splice|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1250					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATGATTCAGCCTATAATTA	0.249000													6	9					0	0	0.021553	0	0
HEATR6	63897	broad.mit.edu	37	17	58153570	58153570	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:58153570C>G	ENST00000184956.6	-	2	264	c.248G>C	c.(247-249)tGc>tCc	p.C83S	HEATR6_ENST00000585976.1_Missense_Mutation_p.C83S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	83							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)			TACCAGTCGGCAAGCCTGGAC	0.378000													18	23					0	0	0.043863	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705382	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:50705382G>A	ENST00000442544.2	+	9	2085	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	DCC_ENST00000412726.1_Missense_Mutation_p.G338E|DCC_ENST00000581580.1_Missense_Mutation_p.G145E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCACTGTGGGAAACCTGAAG	0.478000													15	38					0	0	0.038395	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064740	129064740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:129064740C>T	ENST00000325006.3	+	14	1640	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	AHCYL2_ENST00000531335.2_Missense_Mutation_p.S448F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S426F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S426F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S427F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S528F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	529					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CTTAGCTGCTCCACAGTGCCT	0.512000													40	114					0	0	0.045515	0	0
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:104130542G>A	ENST00000259407.2	-	3	637	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_ENST00000395051.3_Missense_Mutation_p.R177W	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478000													8	26					0	0	0.058154	0	0
TENM4	26011	broad.mit.edu	37	11	78437243	78437243	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:78437243G>A	ENST00000278550.7	-	23	3893	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATCTGGGCAGGATTCATATTC	0.468000													71	111					0	0	0.048971	0	0
EPHB1	2047	broad.mit.edu	37	3	134851608	134851608	+	Silent	SNP	C	C	T	rs113043235		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:134851608C>T	ENST00000398015.3	+	5	1384	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	338	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGACGTCCATCATTCTGGAGT	0.562000													16	26					0	0	0.024245	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508235	37508235	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:37508235C>T	ENST00000374660.1	+	40	3883	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1143Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1143Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1199						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						TGAATCACACCATCCTAGACT	0.398000													37	38					0	0	0.064281	0	0
CHRNG	1146	broad.mit.edu	37	2	233409160	233409160	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:233409160G>A	ENST00000389494.3	+	10	1140	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	CHRNG_ENST00000389492.3_Silent_p.R321R	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	373					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCAGTCCCGGCTACAGAATG	0.652000													51	79					0	0	0.048971	0	0
COL2A1	1280	broad.mit.edu	37	12	48372118	48372118	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48372118C>T	ENST00000380518.3	-	43	3123	c.2959G>A	c.(2959-2961)Ggg>Agg	p.G987R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G918R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	987	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACGTTGCCCAGGCAGACCG	0.637000													12	21					0	0	0.020292	0	0
STAB2	55576	broad.mit.edu	37	12	104122764	104122764	+	Silent	SNP	C	C	T	rs146494560		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104122764C>T	ENST00000388887.2	+	48	5277	c.5073C>T	c.(5071-5073)tcC>tcT	p.S1691S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1691	FAS1 5.				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						TAGTCATCTCCGTCTCTCAGG	0.507000													18	38					0	0	0.033300	0	0
CHUK	1147	broad.mit.edu	37	10	101980384	101980384	+	Silent	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:101980384T>C	ENST00000370397.7	-	5	521	c.435A>G	c.(433-435)ctA>ctG	p.L145L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	145	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TTTCAGGTTTTAGATCTCGAT	0.308000													23	24					0	0	0.099896	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:215916657G>A	ENST00000366943.2	-	59	11796	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3804S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)			22	46					0	0	0.083992	0	0
LPPR5	163404	broad.mit.edu	37	1	99422251	99422251	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:99422251C>T	ENST00000370188.3	-	2	644	c.284G>A	c.(283-285)aGg>aAg	p.R95K	LPPR5_ENST00000263177.4_Missense_Mutation_p.R95K	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		95						integral to membrane	hydrolase activity										TTCAAAATCCCTTGTGGCTAG	0.348000													28	12					0	0	0.059317	0	0
EXOC6	54536	broad.mit.edu	37	10	94733881	94733881	+	Silent	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:94733881T>A	ENST00000371552.4	+	18	1859	c.1830T>A	c.(1828-1830)ctT>ctA	p.L610L	EXOC6_ENST00000260762.6_Silent_p.L615L|EXOC6_ENST00000443748.2_Silent_p.L512L|EXOC6_ENST00000371547.4_Silent_p.L631L	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	615					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTGTTCAGCTTGCTGATTATG	0.363000													192	244					0	0	0.048971	0	0
TPP2	7174	broad.mit.edu	37	13	103286311	103286311	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:103286311C>T	ENST00000376052.3	+	11	1272	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	TPP2_ENST00000376065.4_Missense_Mutation_p.A419V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	419					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGACGGGGCCCTTGGTGTG	0.468000													14	57					0	0	0.033300	0	0
RORB	6096	broad.mit.edu	37	9	77282779	77282779	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:77282779A>C	ENST00000376896.2	+	8	1685	c.1073A>C	c.(1072-1074)gAg>gCg	p.E358A	RORB_ENST00000396204.2_Missense_Mutation_p.E369A	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	369	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACCGAGGAGGAGATCGCTTTG	0.373000													31	43					0	0	0.054565	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507330	74507330	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74507330C>T	ENST00000354431.4	-	7	1476	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E429K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	429										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTTTTGTTCTGTGTAATAT	0.363000													56	19					0	0	0.048971	0	0
XPOT	11260	broad.mit.edu	37	12	64833072	64833072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:64833072C>T	ENST00000332707.5	+	23	3311	c.2782C>T	c.(2782-2784)Caa>Taa	p.Q928*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	928	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCCCTCCTTGCAAGTAGCTCC	0.403000													8	33					0	0	0.038147	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092105	202092105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:202092105G>A	ENST00000367282.4	+	1	120	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	5						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGGTGGCTGTGGCCCCTGGCT	0.667000													63	12					0	0	0.048971	0	0
COL5A3	50509	broad.mit.edu	37	19	10097023	10097023	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:10097023C>T	ENST00000264828.3	-	30	2405	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	774	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCCCCTCCTCGCCAGCCTGC	0.617000													7	12					0	0	0.029380	0	0
NBPF18P	441908	broad.mit.edu	37	1	151992726	151992726	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:151992726C>T	ENST00000432386.1	+	0	2391					NR_103561.1																						ATGAAGAATTCAAAGACCTCA	0.532000													25	53					0	0	0.091800	0	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52825840C>T	ENST00000252245.5	-	3	944	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000													10	26					0	0	0.080935	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120896	46120896	+	Silent	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:46120896A>T	ENST00000355105.3	-	5	1516	c.156T>A	c.(154-156)ggT>ggA	p.G52G	GPBP1L1_ENST00000290795.3_Silent_p.G52G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGTTAAAAAAACCATCAGAGG	0.478000													12	125					0	0	0.020292	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805843	20805843	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:20805843C>T	ENST00000577537.1	+	0	1027				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA																							TTGCAGATTTCCTGACAAAGT	0.512000													5	6					0	0	0.029380	0	0
MYO15A	51168	broad.mit.edu	37	17	18025674	18025674	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:18025674C>T	ENST00000205890.5	+	2	3898	c.3560C>T	c.(3559-3561)tCc>tTc	p.S1187F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1187	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCTGCCTGTCCCTTAGGGGC	0.637000													21	12					0	0	0.062417	0	0
PRR3	80742	broad.mit.edu	37	6	30525980	30525980	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:30525980C>T	ENST00000376560.3	+	2	619	c.160C>T	c.(160-162)Cct>Tct	p.P54S	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Intron	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	54	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						ACCTGGCGACCCTAAGTCAGG	0.498000													29	38					0	0	0.050027	0	0
OR2L8	391190	broad.mit.edu	37	1	248112261	248112261	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:248112261C>T	ENST00000357191.3	+	1	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTTCATTTTCCTGATGGCTC	0.398000													218	57					0	0	0.048971	0	0
EIF3L	51386	broad.mit.edu	37	22	38271940	38271940	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:38271940C>T	ENST00000412331.2	+	10	1581	c.999C>T	c.(997-999)atC>atT	p.I333I	EIF3L_ENST00000406934.1_Silent_p.I235I|EIF3L_ENST00000381683.6_Silent_p.I285I	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	333						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGATGCCATCCGGGTCTTCG	0.502000													77	117					0	0	0.048971	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524043	24524043	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:24524043G>A	ENST00000376862.3	+	2	943	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCCTGGGGGGACGGTGTGGC	0.637000													29	68					0	0	0.069456	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415124	88415124	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:88415124C>T	ENST00000418378.1	-	5	1399	c.828G>A	c.(826-828)atG>atA	p.M276I	SPARCL1_ENST00000282470.6_Missense_Mutation_p.M276I|SPARCL1_ENST00000503414.1_Missense_Mutation_p.M151I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	276					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)		TTTCCTCTTCCATTTCTGCAT	0.413000													91	144					0	0	0.048971	0	0
MCM2	4171	broad.mit.edu	37	3	127335869	127335869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:127335869C>T	ENST00000265056.7	+	10	1925	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	561	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGCGTATGTCCAGCGGCACCC	0.592000													62	77					0	0	0.048971	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921597	167921597	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:167921597C>T	ENST00000357154.3	-	5	399	c.262G>A	c.(262-264)Gat>Aat	p.D88N	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D85N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D88N|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D88N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D37N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D88N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	88					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAGCATGGATCCTTAGCTGGA	0.368000													19	31					0	0	0.038395	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015211	45015211	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45015211C>T	ENST00000454753.1	-	0	1893							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGCAGCTTCGTCTGCAAGT	0.532000													89	195					0	0	0.048971	0	0
COL2A1	1280	broad.mit.edu	37	12	48387816	48387816	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48387816G>A	ENST00000380518.3	-	13	995	c.831C>T	c.(829-831)ttC>ttT	p.F277F	COL2A1_ENST00000337299.6_Silent_p.F208F	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	277	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542000													59	147					0	0	0.048971	0	0
ZNF681	148213	broad.mit.edu	37	19	23928095	23928095	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:23928095G>A	ENST00000402377.3	-	4	398	c.257C>T	c.(256-258)tCa>tTa	p.S86L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S17L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTGCTCTGGTGAAAAGTCTTG	0.313000													4	14					0	0	0.009096	0	0
MYO7B	4648	broad.mit.edu	37	2	128384601	128384601	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:128384601G>A	ENST00000389524.4	+	31	4242	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	MYO7B_ENST00000409816.2_Missense_Mutation_p.V1397M|MYO7B_ENST00000409090.1_Missense_Mutation_p.V250M|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1397M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1397	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGAGCAGGTGGTGGACGCCGC	0.622000													9	16					0	0	0.080935	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774560	12774560	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:12774560C>T	ENST00000456935.2	-	5	760	c.720G>A	c.(718-720)cgG>cgA	p.R240R	MAN2B1_ENST00000221363.4_Silent_p.R240R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	240					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGTGCTGGCCCGCCACACCT	0.617000													10	17					0	0	0.069234	0	0
IVL	3713	broad.mit.edu	37	1	152883885	152883885	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:152883885G>A	ENST00000368764.3	+	2	1676	c.1612G>A	c.(1612-1614)Ggg>Agg	p.G538R	IVL_ENST00000392667.2_Missense_Mutation_p.G392R			P07476	INVO_HUMAN	involucrin	538	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagaaggggcagctgga	0.577000													5	18					0	0	0.014758	0	0
FRG1B	284802	broad.mit.edu	37	20	29623188	29623188	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:29623188G>A	ENST00000278882.3	+	0	380				FRG1B_ENST00000358464.4_De_novo_Start_InFrame|FRG1B_ENST00000439954.2_Missense_Mutation_p.D2N																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATTGAAATGGATGAGGGAAC	0.373000													13	529					0	0	0.028581	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420137	56420137	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:56420137C>T	ENST00000407595.2	+	2	1304	c.802C>T	c.(802-804)Cca>Tca	p.P268S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	268	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTGGAACCCCAGATCGCCC	0.652000													22	33					0	0	0.055883	0	0
PCDH15	65217	broad.mit.edu	37	10	55955504	55955504	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:55955504G>A	ENST00000373965.2	-	11	1638	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	PCDH15_ENST00000395446.1_Missense_Mutation_p.S415L|PCDH15_ENST00000437009.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395430.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395440.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S378L|PCDH15_ENST00000395445.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S393L|PCDH15_ENST00000373955.1_Missense_Mutation_p.S415L|PCDH15_ENST00000414778.1_Missense_Mutation_p.S420L|PCDH15_ENST00000395438.1_Missense_Mutation_p.S415L|PCDH15_ENST00000409834.1_Missense_Mutation_p.S19L|PCDH15_ENST00000361849.3_Missense_Mutation_p.S415L|PCDH15_ENST00000320301.6_Missense_Mutation_p.S415L|PCDH15_ENST00000373957.3_Missense_Mutation_p.S393L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	415	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGACTGTCCGAAATGGTTGC	0.373000										HNSCC(58;0.16)			24	53					0	0	0.030593	0	0
BSPRY	54836	broad.mit.edu	37	9	116132216	116132216	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:116132216C>T	ENST00000374183.4	+	6	1042	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	335	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCAGGAGTTTCGTTTCTCACA	0.617000													19	39					0	0	0.049695	0	0
ATR	545	broad.mit.edu	37	3	142269040	142269040	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:142269040C>G	ENST00000350721.4	-	14	3031	c.2910G>C	c.(2908-2910)atG>atC	p.M970I	ATR_ENST00000383101.3_Missense_Mutation_p.M906I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	970					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTTAAAGCCATTTCTCTCT	0.418000								Other conserved DNA damage response genes					23	29					0	0	0.062417	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478943	14478943	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:14478943C>T	ENST00000581457.1	-	0	965					NR_024076.1																						GCTGTAAATTCGTTACATTTA	0.363000													15	16					0	0	0.024245	0	0
ADAM21	8747	broad.mit.edu	37	14	70924300	70924300	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:70924300C>T	ENST00000603540.1	+	2	342	c.84C>T	c.(82-84)taC>taT	p.Y28Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.Y28Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	28					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)		TTTCCGGCTACTGTCAGGCTG	0.537000													32	32					0	0	0.045705	0	0
COL2A1	1280	broad.mit.edu	37	12	48372117	48372117	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48372117C>T	ENST00000380518.3	-	43	3124	c.2960G>A	c.(2959-2961)gGg>gAg	p.G987E	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G918E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	987	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCACGTTGCCCAGGCAGACC	0.632000													12	22					0	0	0.020292	0	0
GPR97	222487	broad.mit.edu	37	16	57719772	57719772	+	Silent	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57719772T>C	ENST00000333493.4	+	11	1635	c.1474T>C	c.(1474-1476)Ttg>Ctg	p.L492L	GPR97_ENST00000450388.3_Silent_p.L372L|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.L282L	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACATGGGGGTTGGCCATCTT	0.617000													34	46					0	0	0.064281	0	0
LY96	23643	broad.mit.edu	37	8	74917094	74917094	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:74917094G>A	ENST00000284818.2	+	2	267	c.176G>A	c.(175-177)gGa>gAa	p.G59E	LY96_ENST00000518893.1_Intron	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	59					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			AGATCCAAAGGATTATTGCAC	0.269000													21	52					0	0	0.083992	0	0
GRIA1	2890	broad.mit.edu	37	5	153029987	153029987	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:153029987G>A	ENST00000285900.5	+	4	901	c.558G>A	c.(556-558)cgG>cgA	p.R186R	GRIA1_ENST00000518783.1_Silent_p.R196R|GRIA1_ENST00000448073.4_Silent_p.R196R|GRIA1_ENST00000521843.2_Silent_p.R117R|GRIA1_ENST00000340592.5_Silent_p.R186R|GRIA1_ENST00000518142.1_Silent_p.R106R|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	186					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGGATACCGGATGCTCTTTC	0.517000													29	33					0	0	0.037714	0	0
PLEKHN1	84069	broad.mit.edu	37	1	908974	908974	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:908974C>T	ENST00000379409.2	+	12	1574	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.P428L|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.P463L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	515										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TACACACCACCCGCCACCTCC	0.657000													57	52					0	0	0.048971	0	0
HYDIN	54768	broad.mit.edu	37	16	70972585	70972585	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70972585G>A	ENST00000393567.2	-	44	7077	c.6927C>T	c.(6925-6927)gcC>gcT	p.A2309A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2309										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCAGTCAGGGCATCATATT	0.562000													15	21					0	0	0.038395	0	0
EXD1	161829	broad.mit.edu	37	15	41483761	41483761	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41483761G>A	ENST00000314992.5	-	8	759	c.569C>T	c.(568-570)tCc>tTc	p.S190F	EXD1_ENST00000458580.2_Missense_Mutation_p.S248F	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	190					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CGTTTCCATGGAAAACTGAAG	0.378000													20	28					0	0	0.083992	0	0
XRN1	54464	broad.mit.edu	37	3	142037516	142037516	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:142037516G>A	ENST00000264951.4	-	39	4653	c.4536C>T	c.(4534-4536)ttC>ttT	p.F1512F	XRN1_ENST00000392981.2_Silent_p.F1513F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1512					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAGGCAAAGGGAAATTCATGC	0.378000													11	27					0	0	0.093190	0	0
ENAM	10117	broad.mit.edu	37	4	71509727	71509727	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:71509727G>A	ENST00000396073.3	+	9	2865	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	862					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGTCAAAAAGAAGCACATTT	0.448000													20	32					0	0	0.055883	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922716	74922716	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:74922716C>T	ENST00000569840.2	+	10	1769	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	MGAT5B_ENST00000301618.4_Missense_Mutation_p.P399S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P410S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	399						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGGACGGAACCTGCGTACAA	0.617000													24	27					0	0	0.083992	0	0
CA3	761	broad.mit.edu	37	8	86354352	86354352	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:86354352C>T	ENST00000285381.2	+	3	366	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	95					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGTTTCATCTTCACTGGGG	0.512000													48	62					0	0	0.048971	0	0
PHF20	51230	broad.mit.edu	37	20	34487325	34487325	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:34487325G>A	ENST00000374012.3	+	10	1445	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GATGATTTTGGGTCATCTAAT	0.333000													10	15					0	0	0.105934	0	0
RP1	6101	broad.mit.edu	37	8	55533703	55533703	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:55533703C>T	ENST00000220676.1	+	2	325	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	59	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCTCGCTCCTTTAAGTCCT	0.557000													41	45					0	0	0.098360	0	0
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9071592G>A	ENST00000397910.4	-	3	16057	c.15854C>T	c.(15853-15855)cCc>cTc	p.P5285L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(2)|p.P918H(1)		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						TGTGTCCAAGGGAAGGGTACT	0.517000													31	47					0	0	0.050027	0	0
TSGA10	80705	broad.mit.edu	37	2	99689498	99689498	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:99689498C>T	ENST00000393483.3	-	13	1765	c.921G>A	c.(919-921)gaG>gaA	p.E307E	TSGA10_ENST00000410001.1_Silent_p.E307E|TSGA10_ENST00000355053.4_Silent_p.E307E|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000539964.1_Silent_p.E307E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	307					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CCTGTTCCATCTCAGCAATGA	0.333000													42	56					0	0	0.048971	0	0
FANCD2	2177	broad.mit.edu	37	3	10091094	10091094	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:10091094G>A	ENST00000287647.3	+	17	1543	c.1450G>A	c.(1450-1452)Ggg>Agg	p.G484R	FANCD2_ENST00000383807.1_Missense_Mutation_p.G484R|FANCD2_ENST00000383806.1_Missense_Mutation_p.G484R|FANCD2_ENST00000419585.1_Missense_Mutation_p.G484R	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	484					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TATCTGCAGTGGGAATGAAGC	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	215					0	0	0.076483	0	0
MYH7	4625	broad.mit.edu	37	14	23894021	23894021	+	Missense_Mutation	SNP	G	G	A	rs145417343		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:23894021G>A	ENST00000355349.3	-	22	2798	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	879					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGCAGCAGGGACACCATCTT	0.592000													18	13					0	0	0.043863	0	0
AC015849.16	0	broad.mit.edu	37	17	34235898	34235898	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:34235898G>A	ENST00000587132.1	-	0	2129																											TCTGTAGTAGGTTCTGTAGTT	0.463000													15	27					0	0	0.033300	0	0
ACSM3	6296	broad.mit.edu	37	16	20797429	20797429	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:20797429G>A	ENST00000289416.5	+	9	1648	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	ACSM3_ENST00000440284.2_Missense_Mutation_p.M391I|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.M383I|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	391					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						TTAAGGGAATGAAAATTAAAC	0.353000													19	25					0	0	0.069288	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151116	11151116	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:11151116G>A	ENST00000544779.1	-	5	603	c.598C>T	c.(598-600)Cct>Tct	p.P200S	EXOSC10_ENST00000304457.7_Missense_Mutation_p.P200S|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P200S			Q01780	EXOSX_HUMAN	exosome component 10	200					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGATTTTAGGAAGAAATGGT	0.393000													52	94					0	0	0.048971	0	0
F11R	50848	broad.mit.edu	37	1	160969759	160969759	+	Missense_Mutation	SNP	G	G	A	rs144466757		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:160969759G>A	ENST00000368026.6	-	6	875	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.P152S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	201	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GCTGACAGGGGATCAAAGACC	0.473000													43	8					0	0	0.098360	0	0
NXPH1	30010	broad.mit.edu	37	7	8791266	8791266	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:8791266C>T	ENST00000405863.1	+	3	1594	c.683C>T	c.(682-684)tCc>tTc	p.S228F	NXPH1_ENST00000602349.1_Missense_Mutation_p.S111F|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	228	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTCATGTATCCTGGCTCTGC	0.413000													20	22					0	0	0.062417	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743797	102743797	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:102743797G>A	ENST00000210633.3	+	14	2519	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	SEMA4G_ENST00000370250.4_Missense_Mutation_p.G809E|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.P167L|MRPL43_ENST00000370242.4_Missense_Mutation_p.P167L			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	809					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTACCAGCAGGGCCCTGCTCC	0.587000													13	69					0	0	0.024245	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140249718G>A	ENST00000398640.2	+	1	1030	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000													11	33					0	0	0.069234	0	0
UNC5C	8633	broad.mit.edu	37	4	96199481	96199481	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:96199481C>T	ENST00000453304.1	-	4	871	c.523G>A	c.(523-525)Gga>Aga	p.G175R	UNC5C_ENST00000504962.1_Missense_Mutation_p.G175R|UNC5C_ENST00000506749.1_Missense_Mutation_p.G175R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	175	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACTTCCTTTCCTAGGGGTTCC	0.408000													29	35					0	0	0.037714	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945117	33945117	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33945117C>T	ENST00000361328.3	+	2	381	c.228C>T	c.(226-228)tgC>tgT	p.C76C	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.C76C	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	76	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCTCTCTGCTGTCGTTGGC	0.612000													18	43					0	0	0.038395	0	0
PPP1R21	129285	broad.mit.edu	37	2	48678188	48678188	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:48678188T>G	ENST00000294952.8	+	2	256	c.99T>G	c.(97-99)gaT>gaG	p.D33E	PPP1R21_ENST00000449090.2_Missense_Mutation_p.D33E|PPP1R21_ENST00000281394.4_Missense_Mutation_p.D33E	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	33										endometrium(2)|kidney(4)|lung(9)	15						GTGTTGTGGATGAACAAGCAA	0.383000													37	51					0	0	0.104719	0	0
XIRP1	165904	broad.mit.edu	37	3	39228484	39228484	+	Missense_Mutation	SNP	C	C	T	rs145488377	byFrequency	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:39228484C>T	ENST00000340369.3	-	2	2681	c.2453G>A	c.(2452-2454)cGa>cAa	p.R818Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R818Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	818							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTCCTTTCGTATATAAGG	0.617000													33	43					0	0	0.054565	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863803	108863803	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:108863803G>A	ENST00000376700.1	+	1	153	c.153G>A	c.(151-153)ctG>ctA	p.L51L	SULT1C3_ENST00000329106.2_Silent_p.L51L			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	51						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATCTTATTCTGGCAACTTACC	0.333000													25	38					0	0	0.034045	0	0
CTNND2	1501	broad.mit.edu	37	5	10973601	10973601	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:10973601C>T	ENST00000304623.8	-	22	3831	c.3642G>A	c.(3640-3642)acG>acA	p.T1214T	CTNND2_ENST00000359640.2_Silent_p.T1156T|CTNND2_ENST00000503622.1_Silent_p.T877T|CTNND2_ENST00000511377.1_Silent_p.T1123T|CTNND2_ENST00000458100.2_Silent_p.T781T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1214					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTAGTGGCTCGTTTCATAGT	0.577000													17	35					0	0	0.049695	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815026	106815026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:106815026G>A	ENST00000407775.2	+	8	2966	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	ZFPM2_ENST00000517361.1_Missense_Mutation_p.D774N|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D774N|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D637N|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	906					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAACAGCCCTGATGTCAGCTA	0.458000													18	12					0	0	0.043863	0	0
AHRR	57491	broad.mit.edu	37	5	427994	427994	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:427994C>T	ENST00000316418.5	+	9	891	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	AHRR_ENST00000505113.1_Missense_Mutation_p.P265S|AHRR_ENST00000506456.1_Missense_Mutation_p.P121S|AHRR_ENST00000512529.1_Missense_Mutation_p.P111S	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCATGCTCCCGCCGCGGCT	0.562000													10	22					0	0	0.105934	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058631	5058631	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:5058631G>A	ENST00000251170.7	+	14	1962	c.1782G>A	c.(1780-1782)cgG>cgA	p.R594R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	594	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TTGTCTGCCGGGAGGGGGAGA	0.642000													27	57					0	0	0.030593	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623371	46623371	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:46623371C>T	ENST00000398637.5	-	4	868	c.174G>A	c.(172-174)ttG>ttA	p.L58L	SLC38A1_ENST00000552197.1_Silent_p.L58L|SLC38A1_ENST00000546893.1_Silent_p.L58L|SLC38A1_ENST00000549049.1_Silent_p.L58L|SLC38A1_ENST00000439706.1_Silent_p.L58L|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	58					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCTTTTTTTCCAAATGGCTGT	0.284000													22	57					0	0	0.083992	0	0
LARS	51520	broad.mit.edu	37	5	145493815	145493815	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:145493815G>A	ENST00000394434.2	-	32	3551	c.3385C>T	c.(3385-3387)Cct>Tct	p.P1129S	LARS_ENST00000510191.1_Missense_Mutation_p.P1075S|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.P1083S|LARS_ENST00000274562.9_Missense_Mutation_p.P1102S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1129					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCAGGACAGGAACTCGTCGA	0.413000													4	31					0	0	0.014758	0	0
LRRC17	10234	broad.mit.edu	37	7	102574540	102574540	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:102574540C>T	ENST00000249377.4	+	2	461	c.180C>T	c.(178-180)ctC>ctT	p.L60L	FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Silent_p.L60L|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	60					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACACATATCTCCATGAGAAAT	0.522000													34	28					0	0	0.054565	0	0
UBE3B	89910	broad.mit.edu	37	12	109921395	109921395	+	Silent	SNP	C	C	T	rs141528351	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:109921395C>T	ENST00000342494.3	+	3	634	c.39C>T	c.(37-39)atC>atT	p.I13I	UBE3B_ENST00000340074.5_Silent_p.I13I|UBE3B_ENST00000280774.5_Silent_p.I13I|UBE3B_ENST00000540230.1_Silent_p.I13I|UBE3B_ENST00000536398.1_Silent_p.I13I|UBE3B_ENST00000434735.2_Silent_p.I13I|UBE3B_ENST00000537063.1_Silent_p.I13I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	13					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATGGTTCATCGATAGAGCCC	0.527000													47	67					0	0	0.048971	0	0
HJURP	55355	broad.mit.edu	37	2	234749392	234749392	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234749392G>C	ENST00000411486.2	-	8	2099	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	HJURP_ENST00000432087.1_Missense_Mutation_p.F624L|HJURP_ENST00000441687.1_Missense_Mutation_p.F593L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	678					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTTTTGCAGGGAACTGATGGT	0.577000													34	53					0	0	0.054565	0	0
MAST1	22983	broad.mit.edu	37	19	12977540	12977540	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:12977540C>T	ENST00000251472.4	+	18	2142	c.2103C>T	c.(2101-2103)atC>atT	p.I701I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	701	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGTGGAAATCCGCCAGTTCT	0.622000													6	16					0	0	0.038147	0	0
PGAP2	27315	broad.mit.edu	37	11	3832548	3832548	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:3832548C>T	ENST00000278243.4	+	2	260	c.59C>T	c.(58-60)aCc>aTc	p.T20I	PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Missense_Mutation_p.T77I|PGAP2_ENST00000463452.2_Missense_Mutation_p.T20I|PGAP2_ENST00000493547.2_Missense_Mutation_p.T20I|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.T20I|PGAP2_ENST00000396986.2_Missense_Mutation_p.T77I|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000532017.1_3'UTR	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	20					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTCCGCTTCACCATGGTGGCC	0.607000													16	40					0	0	0.033300	0	0
MYO16	23026	broad.mit.edu	37	13	109438085	109438085	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:109438085G>A	ENST00000356711.2	+	5	670	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Missense_Mutation_p.E182K|MYO16_ENST00000357550.2_Missense_Mutation_p.E182K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	182					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTATCTGGATGAAAATGGTAG	0.373000													11	27					0	0	0.080935	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563903	58563903	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:58563903C>T	ENST00000282326.1	+	5	758	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGCACTCCCCGAGGAAAG	0.652000													30	42					0	0	0.045705	0	0
KCNH5	27133	broad.mit.edu	37	14	63417186	63417186	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:63417186C>T	ENST00000322893.7	-	7	1302	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	KCNH5_ENST00000394968.1_Missense_Mutation_p.G287E|KCNH5_ENST00000394964.2_Missense_Mutation_p.G287E|KCNH5_ENST00000420622.2_Missense_Mutation_p.G345E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	345					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			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)		GACTGCTGCTCCATATTCTAG	0.507000													23	15					0	0	0.076483	0	0
IGSF21	84966	broad.mit.edu	37	1	18618377	18618377	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:18618377C>T	ENST00000251296.1	+	3	584	c.201C>T	c.(199-201)acC>acT	p.T67T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	67	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATGGTGGCACCATCAAGCAAA	0.557000													38	96					0	0	0.080422	0	0
LDB3	11155	broad.mit.edu	37	10	88428503	88428503	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:88428503G>A	ENST00000429277.2	+	2	200	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	LDB3_ENST00000263066.6_Missense_Mutation_p.G19R|LDB3_ENST00000310944.6_Missense_Mutation_p.G19R|LDB3_ENST00000352360.5_Missense_Mutation_p.G19R|LDB3_ENST00000542786.1_Missense_Mutation_p.G19R|LDB3_ENST00000361373.4_Missense_Mutation_p.G19R|LDB3_ENST00000372056.4_Missense_Mutation_p.G19R|LDB3_ENST00000458213.2_Missense_Mutation_p.G19R|LDB3_ENST00000372066.3_Missense_Mutation_p.G19R	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	19	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCGTCTGCAGGGGGGCAAGGA	0.652000													36	50					0	0	0.086207	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174819	140174819	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140174819C>T	ENST00000526136.1	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA2_ENST00000378132.1_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.I90I	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.587000													19	113					0	0	0.049695	0	0
SPEG	10290	broad.mit.edu	37	2	220352966	220352966	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:220352966G>A	ENST00000312358.7	+	32	7924	c.7792G>A	c.(7792-7794)Ggg>Agg	p.G2598R	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2598	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCTGGAGGGGGAGGCAGC	0.607000													26	54					0	0	0.108266	0	0
TMEM72	643236	broad.mit.edu	37	10	45430207	45430207	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:45430207C>G	ENST00000544540.1	+	4	583	c.99C>G	c.(97-99)gaC>gaG	p.D33E	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	151						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGTACACAGACCCCTCTAGCA	0.612000													54	80					0	0	0.048971	0	0
BRINP1	1620	broad.mit.edu	37	9	121976406	121976406	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:121976406A>G	ENST00000265922.3	-	6	1174	c.713T>C	c.(712-714)cTg>cCg	p.L238P	DBC1_ENST00000373964.2_Missense_Mutation_p.L238P	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		238	MACPF.				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						CTTCTCTTGCAGATACTGAGG	0.453000													17	24					0	0	0.043863	0	0
MON2	23041	broad.mit.edu	37	12	62926419	62926419	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:62926419G>A	ENST00000393630.3	+	12	1993	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	MON2_ENST00000393632.2_Silent_p.Q534Q|MON2_ENST00000546600.1_Silent_p.Q534Q|MON2_ENST00000552115.1_Silent_p.Q534Q|MON2_ENST00000280379.6_Silent_p.Q534Q|MON2_ENST00000393629.2_Silent_p.Q534Q|MON2_ENST00000552738.1_Silent_p.Q534Q	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	534					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGGATTTACAGTCAACATCAG	0.348000													13	32					0	0	0.105934	0	0
CILP	8483	broad.mit.edu	37	15	65490813	65490813	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:65490813G>A	ENST00000261883.4	-	9	1977	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	604					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACTCCTGGATGGAATCTCCAG	0.532000													41	72					0	0	0.092188	0	0
NDNF	79625	broad.mit.edu	37	4	121966865	121966865	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:121966865G>A	ENST00000379692.4	-	2	654	c.128C>T	c.(127-129)tCg>tTg	p.S43L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	43										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AATTACTGACGAATCATGAAA	0.428000													19	28					0	0	0.049695	0	0
KRT83	3889	broad.mit.edu	37	12	52714852	52714852	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:52714852C>T	ENST00000293670.3	-	1	330	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	90	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGCTCTCGTTGACCGAC	0.667000													51	133					0	0	0.048971	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139545	1139545	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:1139545G>A	ENST00000379268.2	-	4	589	c.470C>T	c.(469-471)tCc>tTc	p.S157F	TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S157F|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S85F|TNFRSF18_ENST00000328596.6_Intron	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	157					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCGGCGGGGACCCTGGGAC	0.652000													17	12					0	0	0.043863	0	0
WWC1	23286	broad.mit.edu	37	5	167850831	167850831	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:167850831C>T	ENST00000265293.4	+	11	2070	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	WWC1_ENST00000521089.1_Missense_Mutation_p.S523F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	523					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTCTGCGTTCCCTGTCTGGC	0.652000													12	19					0	0	0.105934	0	0
MMP16	4325	broad.mit.edu	37	8	89128840	89128840	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:89128840G>A	ENST00000286614.6	-	6	1260	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	327					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTTGGAGGCCGAGGAGGTTTT	0.522000													41	111					0	0	0.104719	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029831	95029831	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:95029831C>T	ENST00000557004.1	+	2	433	c.12C>T	c.(10-12)atC>atT	p.I4I	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.I4I|SERPINA4_ENST00000298841.5_Silent_p.I4I			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	4					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGCATCTTATCGACTACCTGC	0.557000													34	23					0	0	0.069456	0	0
CUX1	1523	broad.mit.edu	37	7	101847763	101847763	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:101847763C>T	ENST00000360264.3	+	19	3053	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.I842I|CUX1_ENST00000549414.2_Silent_p.I978I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.I898I|CUX1_ENST00000550008.2_Silent_p.I944I|CUX1_ENST00000292535.7_Silent_p.I1000I|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1000					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCCTTCATCCGGATGCAGC	0.647000													34	115					0	0	0.080422	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606139	1606139	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:1606139C>T	ENST00000382171.2	-	1	374	c.341G>A	c.(340-342)gGa>gAa	p.G114E	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	114	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCTTGGATCCCCCACAAGA	0.652000													30	23					0	0	0.050027	0	0
CCDC140	151278	broad.mit.edu	37	2	223168937	223168937	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:223168937C>T	ENST00000295226.1	+	2	700	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	106										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACTCCACCCGGGCGTCTCC	0.627000													15	20					0	0	0.028581	0	0
MMP20	9313	broad.mit.edu	37	11	102480636	102480636	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:102480636C>T	ENST00000260228.2	-	4	661	c.649_splice	c.e4+1	p.G217_splice	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	217					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GCATATATACCATTCGTTCCC	0.483000													17	35					0	0	0.043863	0	0
STAB2	55576	broad.mit.edu	37	12	104142922	104142922	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:104142922G>A	ENST00000388887.2	+	59	6630	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2142	EGF-like 17.				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						CCACCTGTAAGATGACAGGCC	0.592000													16	34					0	0	0.028581	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668888	48668888	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:48668888C>T	ENST00000352832.5	+	11	2918	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	CACNA1G_ENST00000510115.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P849L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P849L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P849L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P849L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P849L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P849L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P849L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P849L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P849L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P849L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	849					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)	CGCTTCCTGCCGGCGCTGCAG	0.627000													7	19					0	0	0.029380	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497276	149497276	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:149497276G>A	ENST00000261799.4	-	22	3511	c.3042C>T	c.(3040-3042)ccC>ccT	p.P1014P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1014					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCTCATTGGGCTGCACGG	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								30	31					0	0	0.041601	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372516	151372516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:151372516G>A	ENST00000287878.4	-	4	1178	c.674C>T	c.(673-675)cCc>cTc	p.P225L	PRKAG2_ENST00000433631.2_Missense_Mutation_p.P101L|PRKAG2_ENST00000392801.2_Missense_Mutation_p.P181L|PRKAG2_ENST00000492843.1_Missense_Mutation_p.P101L	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	225					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCTTTGGAGGGAGCATAGTG	0.627000													26	25					0	0	0.034045	0	0
MUC16	94025	broad.mit.edu	37	19	9086851	9086851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9086851G>A	ENST00000397910.4	-	1	5167	c.4964C>T	c.(4963-4965)tCc>tTc	p.S1655F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1655	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						AGCTGGGGAGGATGTTCCTAT	0.507000													30	55					0	0	0.030593	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717515	13717515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:13717515G>A	ENST00000279593.3	-	13	2866	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	886					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCGGTGGGGGAGTTCATTAC	0.567000													47	84					0	0	0.048971	0	0
GPR110	266977	broad.mit.edu	37	6	46977077	46977077	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:46977077C>T	ENST00000371253.2	-	11	2309	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	GPR110_ENST00000283297.5_Missense_Mutation_p.M501I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	698					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAACAGCCATCATCAAATGCT	0.468000													17	12					0	0	0.028581	0	0
ALG9	79796	broad.mit.edu	37	11	111711514	111711514	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111711514G>A	ENST00000398006.2	-	10	1432	c.524C>T	c.(523-525)cCg>cTg	p.P175L	ALG9_ENST00000531154.1_Missense_Mutation_p.P175L|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGCCAATACGGGTGGCCTAA	0.343000													29	43					0	0	0.037714	0	0
CCDC135	84229	broad.mit.edu	37	16	57741474	57741474	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:57741474G>A	ENST00000360716.3	+	8	1182	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D321N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D256N			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	321						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTCTTCATCGACCCATTCAC	0.572000													20	41					0	0	0.055883	0	0
SNX19	399979	broad.mit.edu	37	11	130784568	130784568	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:130784568C>T	ENST00000265909.4	-	1	1836	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	SNX19_ENST00000533214.1_Missense_Mutation_p.E423K|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	423					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCAGCCTCTGCTCCTTCA	0.552000													20	29					0	0	0.049695	0	0
SALL2	6297	broad.mit.edu	37	14	21993005	21993005	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:21993005G>A	ENST00000327430.3	-	2	1151	c.857C>T	c.(856-858)cCt>cTt	p.P286L	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.P149L|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	286							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGCAGAGAAAGGATGCTGTGA	0.602000													19	16					0	0	0.043863	0	0
OR14K1	343170	broad.mit.edu	37	1	247901928	247901928	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247901928G>A	ENST00000283225.2	+	1	12	c.12G>A	c.(10-12)caG>caA	p.Q4Q	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGACCAATCAGACACAGATGA	0.383000													68	20					0	0	0.048971	0	0
TRPM1	4308	broad.mit.edu	37	15	31327763	31327763	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31327763C>T	ENST00000542188.1	-	20	3050	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	TRPM1_ENST00000256552.6_Missense_Mutation_p.E896K|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E874K|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	874					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGTATCTTCTCTAACGCCAGG	0.537000													22	37					0	0	0.076483	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542973	133542973	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:133542973C>T	ENST00000409261.1	-	14	1784	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D471N|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	471							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATCTAGATCATAAACAAAT	0.502000													22	53					0	0	0.055883	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815087	106815087	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:106815087C>T	ENST00000407775.2	+	8	3027	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	ZFPM2_ENST00000517361.1_Missense_Mutation_p.S794F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S794F|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S657F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	926					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGCAGCCTTCCCCCAATGGA	0.423000													12	22					0	0	0.093190	0	0
TMEM19	55266	broad.mit.edu	37	12	72092833	72092833	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:72092833C>T	ENST00000266673.5	+	5	1385	c.791C>T	c.(790-792)gCt>gTt	p.A264V	TMEM19_ENST00000549735.1_Missense_Mutation_p.A264V	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	264						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GGTGGTTTAGCTGGATTACTA	0.403000													23	56					0	0	0.062417	0	0
NLRP13	126204	broad.mit.edu	37	19	56423178	56423178	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56423178C>T	ENST00000588751.1	-	5	2029	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E669K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	669							ATP binding	p.E669K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGAGTTCTTCGTCCTCCAAA	0.408000													31	48					0	0	0.050027	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564140	140564140	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140564140C>T	ENST00000361016.2	+	1	3161	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTTCCTGCCG	0.692000													27	28					0	0	0.034045	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645900	51645900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:51645900C>T	ENST00000317643.6	+	1	343	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R92W|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R92W	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	92	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGGAAACTCGGGACCGATT	0.537000													30	65					0	0	0.064281	0	0
PUM1	9698	broad.mit.edu	37	1	31447636	31447636	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:31447636G>A	ENST00000373747.3	-	10	1470	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	PUM1_ENST00000373742.2_Silent_p.V397V|PUM1_ENST00000423018.2_Silent_p.V360V|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Silent_p.V457V|PUM1_ENST00000257075.5_Silent_p.V456V|PUM1_ENST00000426105.2_Silent_p.V456V|PUM1_ENST00000424085.2_Silent_p.V214V|PUM1_ENST00000373741.4_Silent_p.V492V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	456	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGGTGAGGGACCACAGCTG	0.473000													10	26					0	0	0.080935	0	0
TTN	7273	broad.mit.edu	37	2	179443395	179443395	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:179443395C>T	ENST00000589042.1	-	321	68496	c.68272G>A	c.(68272-68274)Gat>Aat	p.D22758N	TTN_ENST00000342992.6_Missense_Mutation_p.D20190N|TTN_ENST00000359218.5_Missense_Mutation_p.D13818N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13693N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13885N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D21117N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21117	Fibronectin type-III 65.						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)			GATACTGAATCGTGTCTGACA	0.398000													10	23					0	0	0.080935	0	0
DAW1	164781	broad.mit.edu	37	2	228786205	228786205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:228786205C>T	ENST00000309931.2	+	12	1224	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.Q366*|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		CCAGTGCCTCCAGGTTCTTGA	0.448000													25	33					0	0	0.083992	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959234	143959234	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143959234C>T	ENST00000377675.3	-	4	553	c.547G>A	c.(547-549)Gga>Aga	p.G183R	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAGGAATTTCCCCTGTCAGCC	0.522000									Familial Hyperaldosteronism type I				6	83					0	0	0.021553	0	0
ZNF676	163223	broad.mit.edu	37	19	22363977	22363977	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:22363977G>A	ENST00000397121.2	-	3	859	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGGTTGAGGACCAGTTAAA	0.343000													14	36					0	0	0.024245	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464574	30464574	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:30464574C>T	ENST00000355904.4	-	6	925	c.643_splice	c.e6+1	p.E215_splice	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	215					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AAAAGCTCACCTTCATCCACA	0.289000													24	33					0	0	0.034045	0	0
DYSF	8291	broad.mit.edu	37	2	71797377	71797377	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:71797377C>T	ENST00000258104.3	+	28	3221	c.2944C>T	c.(2944-2946)Ccc>Tcc	p.P982S	DYSF_ENST00000409762.1_Missense_Mutation_p.P999S|DYSF_ENST00000413539.2_Missense_Mutation_p.P1013S|DYSF_ENST00000409651.1_Missense_Mutation_p.P1014S|DYSF_ENST00000409366.1_Missense_Mutation_p.P983S|DYSF_ENST00000394120.2_Missense_Mutation_p.P983S|DYSF_ENST00000409582.3_Missense_Mutation_p.P999S|DYSF_ENST00000409744.1_Missense_Mutation_p.P969S|DYSF_ENST00000429174.2_Missense_Mutation_p.P982S|DYSF_ENST00000410041.1_Missense_Mutation_p.P1000S|DYSF_ENST00000410020.3_Missense_Mutation_p.P1000S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	982						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTGCTTCCCAAGGATGA	0.532000													25	58					0	0	0.108266	0	0
CNNM2	54805	broad.mit.edu	37	10	104816663	104816663	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:104816663C>T	ENST00000369878.3	+	4	2139	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	CNNM2_ENST00000457502.2_Missense_Mutation_p.P430L|CNNM2_ENST00000433628.2_Missense_Mutation_p.P672L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	672					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AAGAAAGCCCCCGAATACTAC	0.443000													25	72					0	0	0.030593	0	0
ZNF695	57116	broad.mit.edu	37	1	247150618	247150618	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247150618C>T	ENST00000339986.7	-	4	1346	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	400					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTATGAATTCTCTTATGCTG	0.393000													31	17					0	0	0.054565	0	0
CTTN	2017	broad.mit.edu	37	11	70281742	70281742	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:70281742G>C	ENST00000376561.3	+	18	1841	c.1670G>C	c.(1669-1671)gGa>gCa	p.G557A	CTTN_ENST00000301843.8_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.G278A|CTTN_ENST00000346329.3_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAGGAGAGGACTGGGCCTG	0.607000													5	12					0	0	0.021553	0	0
IGF1	3479	broad.mit.edu	37	12	102811694	102811694	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:102811694C>T	ENST00000307046.8	-	4	671	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000456098.1_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	164					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GCTTCTGTCCCCTCCTTCTGT	0.468000													98	203					0	0	0.048971	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548746	28548746	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:28548746C>T	ENST00000401766.2	-	2	743	c.231G>A	c.(229-231)ggG>ggA	p.G77G	SLC6A4_ENST00000261707.3_Silent_p.G77G			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	77					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCTCCCGTTCCCCTTGATGAA	0.562000													50	76					0	0	0.048971	0	0
CHMP4C	92421	broad.mit.edu	37	8	82644926	82644926	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:82644926C>T	ENST00000297265.4	+	1	258	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	22	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						GCTCCCAGTCCCCAGGAGGCC	0.592000													7	6					0	0	0.038147	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632298	111632298	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:111632298G>A	ENST00000431670.2	+	3	1879	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	PHLDB2_ENST00000495180.1_Missense_Mutation_p.D76N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D490N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D517N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D490N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D490N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D490N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	490						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGCTCTCTGATGAGGAGTC	0.522000													41	73					0	0	0.092188	0	0
ACOX1	51	broad.mit.edu	37	17	73945826	73945826	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:73945826G>A	ENST00000537812.1	-	10	1985	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I	ACOX1_ENST00000301608.4_Missense_Mutation_p.T484I|ACOX1_ENST00000293217.5_Missense_Mutation_p.T484I	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	484					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ATATGCTTCGGTTAGGCTTTC	0.562000													45	55					0	0	0.048971	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222634	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:231222634C>T	ENST00000243810.6	+	3	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SP140L_ENST00000415673.2_Silent_p.F74F|SP140L_ENST00000444636.1_Silent_p.F74F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Silent_p.F74F|SP140L_ENST00000458341.1_5'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	74	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCC	0.373000													48	124					0	0	0.048971	0	0
COL14A1	7373	broad.mit.edu	37	8	121298143	121298143	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:121298143G>A	ENST00000297848.3	+	33	4281	c.4011G>A	c.(4009-4011)ggG>ggA	p.G1337G	COL14A1_ENST00000247781.3_Silent_p.G1242G|COL14A1_ENST00000309791.4_Silent_p.G1337G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1337	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCAGAGTGGGGATTTTCAAA	0.279000													27	34					0	0	0.059317	0	0
CCR5	1234	broad.mit.edu	37	3	46414753	46414753	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:46414753C>T	ENST00000343801.4	+	3	717	c.360C>T	c.(358-360)atC>atT	p.I120I	CCR5_ENST00000292303.4_Silent_p.I120I|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.I120I	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	120					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTTCATCATCCTCCTGACAA	0.483000													71	165					0	0	0.048971	0	0
FMO5	2330	broad.mit.edu	37	1	146684893	146684893	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:146684893G>A	ENST00000254090.4	-	4	857	c.469C>T	c.(469-471)Cct>Tct	p.P157S	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Missense_Mutation_p.P157S|FMO5_ENST00000369272.3_Missense_Mutation_p.P157S	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	157						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTTCCAGAGGTAGATGAGCA	0.512000													48	91					0	0	0.048971	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228346	111228346	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:111228346C>T	ENST00000393067.3	-	4	794	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	94					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TGCAGGGTGGCCGGGGTGGGC	0.627000			T	BCL6	NHL								21	16					0	0	0.076483	0	0
RSBN1	54665	broad.mit.edu	37	1	114311009	114311009	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:114311009G>A	ENST00000261441.5	-	5	1724	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	554						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATTCATTGATCTAGAGTT	0.373000													18	5					0	0	0.049695	0	0
A2ML1	144568	broad.mit.edu	37	12	8991724	8991724	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:8991724C>T	ENST00000299698.7	+	10	1166	c.986C>T	c.(985-987)gCc>gTc	p.A329V		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	173						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAGGCCAATGCCACTCAGAAT	0.423000													17	22					0	0	0.038395	0	0
EPAS1	2034	broad.mit.edu	37	2	46607423	46607423	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:46607423G>A	ENST00000263734.3	+	12	2122	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	538	NTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATGGACGGGGAAGACTTCCA	0.587000													35	83					0	0	0.064281	0	0
MED16	10025	broad.mit.edu	37	19	880117	880117	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:880117G>A	ENST00000312090.6	-	8	1323	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	MED16_ENST00000395808.3_Silent_p.V391V|MED16_ENST00000325464.1_Silent_p.V391V|MED16_ENST00000589119.1_Silent_p.V391V|MED16_ENST00000269814.4_Silent_p.V391V|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	391					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGATGTGGACGCTGCCGT	0.711000													13	13					0	0	0.105934	0	0
SIGIRR	59307	broad.mit.edu	37	11	407816	407816	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:407816C>T	ENST00000431843.2	-	5	788		c.e5+1		SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site|SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCACGCACCGTTTATCTC	0.687000													24	45					0	0	0.108266	0	0
ANP32D	23519	broad.mit.edu	37	12	48866655	48866655	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:48866655G>A	ENST00000266594.1	+	1	208	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	70										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TAAGAAGCTTGAACTAAGCAG	0.368000													17	36					0	0	0.028581	0	0
CPN2	1370	broad.mit.edu	37	3	194062366	194062366	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:194062366G>A	ENST00000323830.3	-	2	1155	c.1066C>T	c.(1066-1068)Ctc>Ttc	p.L356F	CPN2_ENST00000429275.1_Missense_Mutation_p.L356F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	356					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TTCTGGAAGAGGGCTGGGTGC	0.562000													17	51					0	0	0.043863	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435343	7435343	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:7435343C>T	ENST00000319098.4	-	1	1357	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	422	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CCCTTGAAGGCCACCAGGATG	0.587000													7	13					0	0	0.029380	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188644	32188644	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:32188644G>A	ENST00000375023.3	-	5	949	c.811C>T	c.(811-813)Cca>Tca	p.P271S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	271	EGF-like 6.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACAGTCTGGGCCTATGAAA	0.612000													79	126					0	0	0.048971	0	0
MXRA5	25878	broad.mit.edu	37	X	3240517	3240517	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:3240517C>T	ENST00000217939.6	-	5	3363	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1070						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGCATATTTCCTCCCTGTAG	0.458000													37	10					0	0	0.074837	0	0
GABRA2	2555	broad.mit.edu	37	4	46264123	46264123	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:46264123C>T	ENST00000510861.1	-	9	1052	c.879G>A	c.(877-879)atG>atA	p.M293I	GABRA2_ENST00000540012.1_Missense_Mutation_p.M238I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M293I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M293I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M293I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M293I|GABRA2_ENST00000515082.1_Missense_Mutation_p.M293I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	293					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAGAGTTGTCATTGTTAGGA	0.423000													13	24					0	0	0.105934	0	0
SLC36A2	153201	broad.mit.edu	37	5	150718687	150718687	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:150718687G>A	ENST00000335244.4	-	5	588	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SLC36A2_ENST00000521967.1_Silent_p.F153F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	153					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATAATAAGGAAGAAGCTCA	0.403000													31	43					0	0	0.045705	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389344	140389344	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140389344G>A	ENST00000532602.1	+	4	3708	c.2675G>A	c.(2674-2676)gGa>gAa	p.G892E	PCDHA1_ENST00000504120.2_Missense_Mutation_p.G892E|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Missense_Mutation_p.G892E|PCDHA11_ENST00000398640.2_Missense_Mutation_p.G891E|PCDHA5_ENST00000529859.1_Missense_Mutation_p.G878E|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Missense_Mutation_p.G892E|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.G949E|PCDHA3_ENST00000522353.2_Missense_Mutation_p.G892E|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G627E|PCDHA12_ENST00000398631.2_Missense_Mutation_p.G883E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G628E|PCDHA2_ENST00000526136.1_Missense_Mutation_p.G890E|PCDHA4_ENST00000530339.1_Missense_Mutation_p.G889E|PCDHA10_ENST00000307360.5_Missense_Mutation_p.G890E|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G628E|PCDHA6_ENST00000529310.1_Missense_Mutation_p.G892E|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.G905E|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Missense_Mutation_p.G879E	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATCCCAGGATCTCCTGCA	0.498000													16	20					0	0	0.028581	0	0
USP28	57646	broad.mit.edu	37	11	113701610	113701610	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:113701610G>A	ENST00000003302.4	-	9	957	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	USP28_ENST00000260188.5_Silent_p.L297L|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Silent_p.L172L|USP28_ENST00000537706.1_Silent_p.L297L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	297				VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039).	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTCAGTCAGGAAAGTACCA	0.393000													22	47					0	0	0.091800	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810258	106810258	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:106810258G>A	ENST00000526355.1	-	4	1602	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	GUCY1A2_ENST00000347596.2_Silent_p.V378V|GUCY1A2_ENST00000282249.2_Silent_p.V378V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	378					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCGCAGCAGGACCCTTTCAA	0.463000													24	56					0	0	0.083992	0	0
OR2C1	4993	broad.mit.edu	37	16	3406001	3406001	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:3406001C>T	ENST00000304936.2	+	1	113	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCAGACCATCCCCAGCTGGA	0.493000													27	54					0	0	0.108266	0	0
PCLO	27445	broad.mit.edu	37	7	82584171	82584171	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:82584171G>A	ENST00000423517.2	-	5	6435	c.6098C>T	c.(6097-6099)tCt>tTt	p.S2033F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2033F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1964					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						GATGATAAAAGAGCTTGAAAC	0.388000													43	37					0	0	0.092188	0	0
HYDIN	54768	broad.mit.edu	37	16	70972586	70972586	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:70972586G>A	ENST00000393567.2	-	44	7076	c.6926C>T	c.(6925-6927)gCc>gTc	p.A2309V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2309										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCAGTCAGGGCATCATATTC	0.562000													15	21					0	0	0.028581	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957823	74957823	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74957823C>T	ENST00000370891.2	+	25	2543	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P843S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P742S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GTCTCTCTCACCTTCTTCTTC	0.473000													120	41					0	0	0.048971	0	0
INSRR	3645	broad.mit.edu	37	1	156821440	156821440	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:156821440C>T	ENST00000368195.3	-	4	1478	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	361					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTACTGACAGCCCTGGCGAAG	0.562000													15	23					0	0	0.033300	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895485	45895485	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:45895485G>A	ENST00000418234.2	-	8	1546	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P490S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	490	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCCTCGTGGGGCTGAGAGGC	0.672000													12	22					0	0	0.093190	0	0
TRIM51	84767	broad.mit.edu	37	11	55655574	55655574	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:55655574G>A	ENST00000449290.2	+	4	666	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E49K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	192						intracellular	zinc ion binding										ATTTCTCCATGAAGAAGAGCA	0.413000													11	29					0	0	0.080935	0	0
DROSHA	29102	broad.mit.edu	37	5	31422943	31422943	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:31422943G>A	ENST00000511367.2	-	28	3614	c.3370C>T	c.(3370-3372)Ctg>Ttg	p.L1124L	DROSHA_ENST00000344624.3_Silent_p.L1124L|DROSHA_ENST00000442743.1_Silent_p.L1087L|DROSHA_ENST00000513349.1_Silent_p.L1087L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1124	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCCCTTGCCAGAAGTCGAACA	0.393000													11	30					0	0	0.069234	0	0
TTN	7273	broad.mit.edu	37	2	179549675	179549675	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:179549675G>A	ENST00000589042.1	-	130	32736	c.32512C>T	c.(32512-32514)Cct>Tct	p.P10838S	TTN_ENST00000342992.6_Missense_Mutation_p.P9594S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10521S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10521	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)			ACTGGAGCAGGAACTTTCTTT	0.338000													5	16					0	0	0.029380	0	0
PTPN12	5782	broad.mit.edu	37	7	77212886	77212886	+	Silent	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:77212886A>C	ENST00000248594.6	+	4	572	c.300A>C	c.(298-300)ccA>ccC	p.P100P	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	100	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTATGGGCCAAAAGCATATG	0.299000													25	17					0	0	0.091800	0	0
PML	5371	broad.mit.edu	37	15	74328110	74328110	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:74328110G>T	ENST00000268059.6	+	8	2404	c.2308G>T	c.(2308-2310)Ggg>Tgg	p.G770W	PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.G722W|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000436891.3_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGTGGGGGCAGGGGAAAGCAG	0.597000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	72					0.00116845	0.00117624	0.021553	1	0
LILRA1	11024	broad.mit.edu	37	19	55107116	55107116	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:55107116A>T	ENST00000251372.3	+	6	856	c.674A>T	c.(673-675)aAg>aTg	p.K225M	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	225					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTTTCTAAGAAGCCATCACTC	0.562000													29	64					0	0	0.045705	0	0
CSMD1	64478	broad.mit.edu	37	8	2832061	2832061	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:2832061G>A	ENST00000520002.1	-	57	9210	c.8655C>T	c.(8653-8655)tcC>tcT	p.S2885S	CSMD1_ENST00000602723.1_Silent_p.S2827S|CSMD1_ENST00000400186.3_Silent_p.S2827S|CSMD1_ENST00000602557.1_Silent_p.S2885S|CSMD1_ENST00000542608.1_Silent_p.S2826S|CSMD1_ENST00000537824.1_Silent_p.S2884S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2885	Sushi 21.					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)		TCCCTCTGCAGGAGTAGTGCA	0.587000													8	11					0	0	0.047766	0	0
C2orf16	84226	broad.mit.edu	37	2	27802109	27802109	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:27802109C>T	ENST00000408964.2	+	1	2721	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	890										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATCTCTCCACTATGCTAA	0.463000													51	62					0	0	0.048971	0	0
GABRB2	2561	broad.mit.edu	37	5	160758022	160758022	+	Silent	SNP	G	G	A	rs79319310		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:160758022G>A	ENST00000274547.2	-	9	1162	c.945C>T	c.(943-945)ttC>ttT	p.F315F	GABRB2_ENST00000517547.1_Silent_p.F155F|GABRB2_ENST00000353437.6_Silent_p.F315F|GABRB2_ENST00000520240.1_Silent_p.F315F|GABRB2_ENST00000393959.1_Silent_p.F315F|GABRB2_ENST00000517901.1_Silent_p.F252F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCATGAAAACGAAGACAAAGC	0.512000													28	47					0	0	0.037714	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391419	23391419	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:23391419G>A	ENST00000343070.2	+	12	1647	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	SCNN1B_ENST00000307331.5_Missense_Mutation_p.G536R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.G464R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.G455R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	491					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCAGGAAGGGAATTGTCAA	0.488000													15	59					0	0	0.028581	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599724	45599724	+	Splice_Site	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:45599724A>C	ENST00000336156.4	-	6	723		c.e6+1		KIAA0930_ENST00000443310.3_Splice_Site|KIAA0930_ENST00000251993.7_Splice_Site|KIAA0930_ENST00000391627.2_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCCCGCACTCACCCGGTTGTC	0.642000													13	14					0	0	0.105934	0	0
FMO3	2328	broad.mit.edu	37	1	171086346	171086346	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:171086346C>T	ENST00000367755.4	+	9	1474	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	FMO3_ENST00000392085.2_Missense_Mutation_p.P455S|FMO3_ENST00000542847.1_Missense_Mutation_p.P435S|FMO3_ENST00000538429.1_Missense_Mutation_p.P392S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	455					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTCACAGATCCCAAATTGGC	0.493000													32	46					0	0	0.045705	0	0
OR4X1	390113	broad.mit.edu	37	11	48285864	48285864	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:48285864T>G	ENST00000320048.1	+	1	452	c.452T>G	c.(451-453)cTg>cGg	p.L151R		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGCGGGGGCCTGCTGCATTCT	0.557000													15	32					0	0	0.033300	0	0
LCMT1	51451	broad.mit.edu	37	16	25172473	25172473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:25172473C>T	ENST00000399069.3	+	6	672	c.517C>T	c.(517-519)Cga>Tga	p.R173*	LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	173							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGCAGATCTCCGAGACCTGTC	0.348000													6	18					0	0	0.029380	0	0
CD14	929	broad.mit.edu	37	5	140012653	140012653	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140012653C>T	ENST00000302014.6	-	1	633		c.e1+1		CD14_ENST00000401743.2_Splice_Site	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule						apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACACTCACCATGGTCGAT	0.617000													7	9					0	0	0.029380	0	0
OR4K5	79317	broad.mit.edu	37	14	20389492	20389492	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:20389492C>T	ENST00000315915.4	+	1	752	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243					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)		GCTGGCTTCCCATATTGCAGT	0.403000													51	37					0	0	0.048971	0	0
AKAP13	11214	broad.mit.edu	37	15	86259046	86259046	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:86259046C>T	ENST00000394518.2	+	20	5722	c.5627C>T	c.(5626-5628)tCc>tTc	p.S1876F	AKAP13_ENST00000361243.2_Missense_Mutation_p.S1880F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.S121F	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1876					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTCCTCGGTCCGCAGTCCTC	0.532000													20	45					0	0	0.062417	0	0
TPTE	7179	broad.mit.edu	37	21	10943004	10943004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:10943004G>A	ENST00000298232.7	-	11	896	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.R157*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R195*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	195					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R177*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CGTAGAAGTCGAAGTAAATGT	0.308000													10	21					0	0	0.080935	0	0
CDAN1	146059	broad.mit.edu	37	15	43028124	43028124	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:43028124G>A	ENST00000356231.3	-	3	745	c.722C>T	c.(721-723)cCc>cTc	p.P241L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	241						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACCCTGGGGGAAGGCCAAG	0.622000													17	41					0	0	0.033300	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256130	58256130	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:58256130G>A	ENST00000249750.4	-	9	1806	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R309C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R318C|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R251C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R326C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	347					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCCACTACGCGCCTCTTGGCC	0.527000													34	61					0	0	0.092188	0	0
DNAH5	1767	broad.mit.edu	37	5	13841080	13841080	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13841080C>T	ENST00000265104.4	-	34	5748	c.5644G>A	c.(5644-5646)Gaa>Aaa	p.E1882K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1882	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)					TTCACTCGTTCCGTGGAACTC	0.398000									Kartagener syndrome				22	42					0	0	0.083992	0	0
OXR1	55074	broad.mit.edu	37	8	107718959	107718959	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:107718959G>A	ENST00000445937.1	+	9	1471	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.E337K|OXR1_ENST00000517566.2_Missense_Mutation_p.E404K|OXR1_ENST00000312046.6_Missense_Mutation_p.E397K|OXR1_ENST00000531443.1_Missense_Mutation_p.E404K|OXR1_ENST00000442977.2_Missense_Mutation_p.E405K	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	405					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)			TTCTACAAATGAAGTTGGGAC	0.358000													17	55					0	0	0.028581	0	0
TRPM1	4308	broad.mit.edu	37	15	31334343	31334343	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:31334343G>A	ENST00000542188.1	-	16	2262	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	TRPM1_ENST00000256552.6_Missense_Mutation_p.P633L|TRPM1_ENST00000397795.2_Missense_Mutation_p.P611L|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	611					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCGTGGAAGGGATACTGGAA	0.532000													8	17					0	0	0.069234	0	0
ARL2	402	broad.mit.edu	37	11	64786191	64786191	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:64786191C>T	ENST00000246747.4	+	3	420	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	ARL2_ENST00000533729.1_Silent_p.L109L|SNX15_ENST00000301886.3_3'UTR|ARL2_ENST00000529384.1_Silent_p.L109L	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	109					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GCTCCAGAGCCTGCTGGTGGA	0.632000													13	24					0	0	0.105934	0	0
MUC16	94025	broad.mit.edu	37	19	9071830	9071830	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9071830C>T	ENST00000397910.4	-	3	15819	c.15616G>A	c.(15616-15618)Gac>Aac	p.D5206N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5208	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						AAACTTGTGTCCGTGGGAAAG	0.463000													37	112					0	0	0.048971	0	0
FLT3	2322	broad.mit.edu	37	13	28608542	28608542	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:28608542G>A	ENST00000380982.4	-	13	1681	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	FLT3_ENST00000241453.7_Missense_Mutation_p.P534S|FLT3_ENST00000537084.1_Missense_Mutation_p.P534S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	534					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGGGAAGGGGCCTGCAACA	0.393000			"""Mis, O"""		"""AML, ALL"""								6	20					0	0	0.029380	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008704	142008704	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:142008704G>A	ENST00000390387.3	+	0	224																											AGGACTCTAAGAAATTTCTGA	0.363000													24	109					0	0	0.108266	0	0
DPH6	89978	broad.mit.edu	37	15	35830580	35830580	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:35830580G>A	ENST00000440392.2	-	3	257	c.207C>T	c.(205-207)ctC>ctT	p.L69L	DPH6_ENST00000256538.4_Silent_p.L69L	NM_001141972.1	NP_001135444.1			diphthamine biosynthesis 6																		TTCGGCGATAGAGGGGAAGAG	0.453000													47	56					0	0	0.039052	0	0
CES1	1066	broad.mit.edu	37	16	55844564	55844564	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:55844564C>T	ENST00000422046.2	-	11	1458	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	CES1_ENST00000360526.3_Missense_Mutation_p.E395K|CES1_ENST00000361503.4_Missense_Mutation_p.E394K			P23141	EST1_HUMAN	carboxylesterase 1	394					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGAATCAGTTCCTTAGCAATG	0.483000													45	93					0	0	0.039052	0	0
FCRL3	115352	broad.mit.edu	37	1	157665275	157665275	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:157665275G>A	ENST00000368184.3	-	8	1546	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.H419Y	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	419	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACATCCTCATGATAAAATCGG	0.582000													36	74					0	0	0.064281	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651589	8651589	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:8651589C>T	ENST00000270328.4	-	19	2522	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	ADAMTS10_ENST00000597188.1_Silent_p.Q752Q|ADAMTS10_ENST00000595838.1_Silent_p.Q239Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	752	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCAGGGACTCCTGGTCTCCCT	0.647000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	70					0	0	0.045515	0	0
BRINP3	339479	broad.mit.edu	37	1	190129940	190129940	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:190129940C>T	ENST00000367462.3	-	7	1273	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	FAM5C_ENST00000534846.1_Missense_Mutation_p.D246N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		348						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAATTAGAATCCATTGTCCAC	0.338000													21	75					0	0	0.083992	0	0
EPC2	26122	broad.mit.edu	37	2	149519472	149519472	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:149519472A>T	ENST00000258484.6	+	5	822	c.788A>T	c.(787-789)cAc>cTc	p.H263L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	263					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATTATTGCACTTAACCTTA	0.323000													11	14					0	0	0.105934	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077217	19077217	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:19077217G>A	ENST00000329773.2	-	2	820	c.733C>T	c.(733-735)Cta>Tta	p.L245L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	245					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CATAATATTAGGAACCACTGA	0.498000													25	45					0	0	0.108266	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049231	36049231	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:36049231C>T	ENST00000282507.3	-	4	704	c.603G>A	c.(601-603)gtG>gtA	p.V201V	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.V167V|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	201						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAATTCTTCACTCGGCCCC	0.458000													21	37					0	0	0.069288	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531347	140531347	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140531347C>T	ENST00000231136.1	+	1	1509	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PCDHB6_ENST00000543635.1_Silent_p.S367S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		503	Cadherin 5.				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)			CCCTGGTCTCCATCAACGCGG	0.667000													47	42					0	0	0.048971	0	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:19553804G>A	ENST00000409832.3	+	1	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	130								p.E130*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000													27	99					0	0	0.086207	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182343	182343	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:182343G>A	ENST00000283426.6	+	18	3771	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1241					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCGTCGAGGAAGATGAGCC	0.657000													13	29					0	0	0.028581	0	0
SCEL	8796	broad.mit.edu	37	13	78184223	78184223	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:78184223G>A	ENST00000535157.1	+	20	1363	c.1193G>A	c.(1192-1194)aGa>aAa	p.R398K	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Missense_Mutation_p.R420K|SCEL_ENST00000349847.3_Missense_Mutation_p.R440K	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	440	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTCCTGAAAGAAACAGAACT	0.378000													17	27					0	0	0.069288	0	0
ZNF407	55628	broad.mit.edu	37	18	72775621	72775621	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:72775621C>T	ENST00000299687.5	+	8	5944	c.5944C>T	c.(5944-5946)Ccc>Tcc	p.P1982S		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1982					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGAGTCGCTCCCCCCGAGGC	0.622000													8	14					0	0	0.047766	0	0
CARS	833	broad.mit.edu	37	11	3039907	3039907	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:3039907T>C	ENST00000397114.3	-	13	1565	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	CARS_ENST00000397111.5_Missense_Mutation_p.M407V|CARS_ENST00000401769.3_Missense_Mutation_p.M420V|CARS_ENST00000278224.9_Missense_Mutation_p.M407V|CARS_ENST00000380525.4_Missense_Mutation_p.M490V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	407					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GACTTTGACATTTTGCAGCCT	0.478000			T	ALK	ALCL								32	36					0	0	0.037714	0	0
STT3B	201595	broad.mit.edu	37	3	31674613	31674613	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:31674613C>T	ENST00000295770.2	+	15	2583	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	792					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CAACATTTTCCCAAAACAGAA	0.378000													6	10					0	0	0.029380	0	0
AREL1	9870	broad.mit.edu	37	14	75130447	75130447	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:75130447A>G	ENST00000356357.4	-	20	2963	c.2448T>C	c.(2446-2448)ggT>ggC	p.G816G	AREL1_ENST00000557401.1_Intron	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AGCCCTCGCAACCCTCGCTGA	0.547000													37	39					0	0	0.039052	0	0
NODAL	4838	broad.mit.edu	37	10	72195531	72195531	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:72195531C>T	ENST00000287139.3	-	2	401	c.402G>A	c.(400-402)atG>atA	p.M134I	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	134					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGAATAGGTCCATCTGAAACC	0.557000													21	47					0	0	0.076483	0	0
CPA1	1357	broad.mit.edu	37	7	130025022	130025022	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:130025022T>C	ENST00000011292.3	+	8	973	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CPA1_ENST00000484324.1_Missense_Mutation_p.Y187H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	275					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CTCGGAGACTTACCACGGCAA	0.552000													43	37					0	0	0.045515	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507089	74507089	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:74507089G>A	ENST00000354431.4	-	7	1717	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.S509F	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGCCTTTTGGGATTTTTCTTT	0.358000													81	23					0	0	0.048971	0	0
PARP4	143	broad.mit.edu	37	13	25029327	25029327	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:25029327G>A	ENST00000381989.3	-	22	2691	c.2586C>T	c.(2584-2586)ccC>ccT	p.P862P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	862					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)		CATCGAGATCGGGTTGAAAGA	0.478000													29	45					0	0	0.034045	0	0
USP39	10713	broad.mit.edu	37	2	85850842	85850842	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:85850842C>T	ENST00000323701.6	+	4	517	c.507C>T	c.(505-507)acC>acT	p.T169T	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Silent_p.T66T|USP39_ENST00000409766.3_Silent_p.T169T|USP39_ENST00000409470.1_Silent_p.T169T|USP39_ENST00000409025.1_Silent_p.T169T	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	169					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACCTCCACACCCTCAAGTTTT	0.478000													107	132					0	0	0.048971	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326039	68326039	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:68326039A>C	ENST00000393799.2	+	8	1004	c.737A>C	c.(736-738)gAa>gCa	p.E246A	PPP6R3_ENST00000524845.1_Missense_Mutation_p.E246A|PPP6R3_ENST00000524904.1_Missense_Mutation_p.E246A|PPP6R3_ENST00000393801.3_Missense_Mutation_p.E246A|PPP6R3_ENST00000265636.5_Missense_Mutation_p.E246A|PPP6R3_ENST00000265637.4_Missense_Mutation_p.E246A|PPP6R3_ENST00000393800.2_Missense_Mutation_p.E246A|PPP6R3_ENST00000527403.2_Missense_Mutation_p.E246A|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.E246A			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	246					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTAGGCAAGAAATTATAGAG	0.383000													19	29					0	0	0.049695	0	0
USH1C	10083	broad.mit.edu	37	11	17531345	17531345	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:17531345G>A	ENST00000005226.7	-	18	1570	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGGGCCAGGGGAGACACAGA	0.582000													31	41					0	0	0.074837	0	0
CELSR3	1951	broad.mit.edu	37	3	48683241	48683241	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:48683241G>A	ENST00000544264.1	-	24	7819	c.7539C>T	c.(7537-7539)tcC>tcT	p.S2513S	CELSR3_ENST00000164024.4_Silent_p.S2508S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2508	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCGTGCGTGGGACCCATTCC	0.637000													15	23					0	0	0.020292	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:93837781G>A	ENST00000315765.9	+	16	2778	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000													27	57					0	0	0.099896	0	0
ARL2	402	broad.mit.edu	37	11	64786190	64786190	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:64786190C>T	ENST00000246747.4	+	3	419	c.324C>T	c.(322-324)agC>agT	p.S108S	ARL2_ENST00000533729.1_Silent_p.S108S|SNX15_ENST00000301886.3_3'UTR|ARL2_ENST00000529384.1_Silent_p.S108S	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	108					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						AGCTCCAGAGCCTGCTGGTGG	0.632000													13	24					0	0	0.105934	0	0
ADAM7	8756	broad.mit.edu	37	8	24339714	24339714	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:24339714A>G	ENST00000175238.6	+	9	848	c.765A>G	c.(763-765)gaA>gaG	p.E255E	ADAM7_ENST00000520720.1_Silent_p.E27E|ADAM7_ENST00000380789.1_Silent_p.E255E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	255	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGACACATGAAGATAAAATAG	0.308000													18	8					0	0	0.038395	0	0
PHLDB1	23187	broad.mit.edu	37	11	118495748	118495748	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:118495748C>T	ENST00000361417.2	+	6	865	c.454C>T	c.(454-456)Cct>Tct	p.P152S	PHLDB1_ENST00000356063.5_Missense_Mutation_p.P152S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	152										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGCCGAGCCCCTGGGCCCCC	0.612000													34	50					0	0	0.069456	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120753	41120753	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41120753C>T	ENST00000299174.5	-	1	154	c.87G>A	c.(85-87)agG>agA	p.R29R	PPP1R14D_ENST00000427255.2_Silent_p.R29R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	29					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGTCCTTCTCCTCCCAGAAG	0.567000													12	47					0	0	0.024245	0	0
PCDH18	54510	broad.mit.edu	37	4	138449656	138449656	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:138449656G>A	ENST00000344876.4	-	3	3102	c.2716C>T	c.(2716-2718)Ctc>Ttc	p.L906F	PCDH18_ENST00000511115.1_Missense_Mutation_p.L86F|PCDH18_ENST00000507846.1_Missense_Mutation_p.L685F|PCDH18_ENST00000412923.2_Missense_Mutation_p.L905F|PCDH18_ENST00000510305.1_Missense_Mutation_p.L117F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	906	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATCTGTGAGAAACAGGTCG	0.448000													82	135					0	0	0.048971	0	0
MUC16	94025	broad.mit.edu	37	19	9090068	9090068	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9090068C>T	ENST00000397910.4	-	1	1950	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	583	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						GATGTTTCTTCAAGCCAAATC	0.532000													10	30					0	0	0.069234	0	0
WASF2	10163	broad.mit.edu	37	1	27739102	27739102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:27739102G>A	ENST00000430629.2	-	7	1003	c.788C>T	c.(787-789)tCc>tTc	p.S263F	WASF2_ENST00000536657.1_Missense_Mutation_p.S263F	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	263					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTGTCCTCGGAGAAGGAAGG	0.478000													19	89					0	0	0.055883	0	0
ZEB2	9839	broad.mit.edu	37	2	145153994	145153994	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:145153994T>C	ENST00000558170.2	-	9	4236	c.3052A>G	c.(3052-3054)Aaa>Gaa	p.K1018E	ZEB2_ENST00000409487.3_Missense_Mutation_p.K1018E|ZEB2_ENST00000303660.4_Missense_Mutation_p.K1018E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K994E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1018						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTTCGTATTTATGTCGCAGA	0.418000													68	117					0	0	0.048971	0	0
ABCB4	5244	broad.mit.edu	37	7	87041264	87041264	+	Nonsense_Mutation	SNP	G	G	A	rs121918440		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:87041264G>A	ENST00000265723.4	-	23	2980	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R957*|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R957*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	957	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCACCAAATCGAAAACAACCG	0.328000													24	13					0	0	0.091800	0	0
PLIN4	729359	broad.mit.edu	37	19	4513464	4513464	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:4513464C>T	ENST00000301286.3	-	3	465	c.466G>A	c.(466-468)Gac>Aac	p.D156N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	156	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						GACACCGTGTCCTTGGTGCCG	0.647000													22	27					0	0	0.069288	0	0
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567000													4	95					0	0	0.009096	0	0
SYNE2	23224	broad.mit.edu	37	14	64494361	64494361	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:64494361C>T	ENST00000358025.3	+	43	6794	c.6564C>T	c.(6562-6564)ttC>ttT	p.F2188F	SYNE2_ENST00000554584.1_Silent_p.F2188F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.F2188F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2188					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATAAGAAATTCCTCAAGAAAG	0.398000													27	15					0	0	0.030593	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197309	81197309	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:81197309G>A	ENST00000533478.1	-	0	1428				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTCGGGCTGGAAAGGGGCTC	0.532000													3	7					0	0	0.004672	0	0
RGAG1	57529	broad.mit.edu	37	X	109696356	109696356	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:109696356G>A	ENST00000465301.2	+	3	2757	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	RGAG1_ENST00000540313.1_Silent_p.V837V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	837										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGCCACAAGTGAAGGCTCCCA	0.537000													80	25					0	0	0.048971	0	0
PCLO	27445	broad.mit.edu	37	7	82453632	82453632	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:82453632G>A	ENST00000423517.2	-	19	14853	c.14516C>T	c.(14515-14517)tCc>tTc	p.S4839F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4839F|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4701					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						GCTCTGACTGGAATGAGACTT	0.428000													33	23					0	0	0.050027	0	0
DLL4	54567	broad.mit.edu	37	15	41224389	41224389	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:41224389C>T	ENST00000249749.5	+	5	955	c.679C>T	c.(679-681)Cat>Tat	p.H227Y		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	227	EGF-like 1.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCGGGCTGTCATGAACAGAA	0.577000													15	20					0	0	0.033300	0	0
PKHD1	5314	broad.mit.edu	37	6	51890237	51890237	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:51890237G>A	ENST00000371117.3	-	32	4646	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F	PKHD1_ENST00000340994.4_Silent_p.F1457F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1457	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTTCAGGGAGAAGGAAGCTC	0.527000													19	10					0	0	0.038395	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899470	156899470	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156899470G>A	ENST00000311946.7	+	6	1019	c.903G>A	c.(901-903)gtG>gtA	p.V301V	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.V282V	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	301						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCTTCTCTGTGGCTGCTGTCA	0.557000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	65					0	0	0.048971	0	0
KIF2B	84643	broad.mit.edu	37	17	51900535	51900535	+	Silent	SNP	G	G	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:51900535G>C	ENST00000268919.4	+	1	297	c.141G>C	c.(139-141)acG>acC	p.T47T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	47					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T47T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGTGGTCACGGAGATCAACA	0.527000													32	42					0	0	0.045705	0	0
ABCC6	368	broad.mit.edu	37	16	16256936	16256936	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:16256936G>A	ENST00000205557.7	-	24	3449	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1140	ABC transmembrane type-1 2.				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)		CCTGGGTTCGGAATGCCCGGA	0.587000													31	65					0	0	0.045705	0	0
QSER1	79832	broad.mit.edu	37	11	32955372	32955372	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:32955372A>G	ENST00000399302.2	+	4	2516	c.2181A>G	c.(2179-2181)ttA>ttG	p.L727L	QSER1_ENST00000527788.1_Silent_p.L488L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	727	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGGTCCTTTTAGATTCTGCCT	0.413000													15	29					0	0	0.028581	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398272	77398272	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:77398272G>A	ENST00000282849.5	-	5	1203	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	262					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGGCTTGGGAGCATCTAC	0.448000													15	25					0	0	0.024245	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223553	154223553	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:154223553C>T	ENST00000428931.1	+	13	1417	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P417L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P417L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P428L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	417					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)			GTGCACAGCCCCTTTACAAAG	0.483000													40	63					0	0	0.098360	0	0
DYSF	8291	broad.mit.edu	37	2	71780317	71780317	+	Splice_Site	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:71780317C>G	ENST00000258104.3	+	20	2206	c.1930_splice	c.e20+1	p.D643_splice	DYSF_ENST00000409762.1_Splice_Site_p.D660_splice|DYSF_ENST00000413539.2_Splice_Site_p.D674_splice|DYSF_ENST00000409651.1_Splice_Site_p.D675_splice|DYSF_ENST00000409366.1_Splice_Site_p.D644_splice|DYSF_ENST00000394120.2_Splice_Site_p.D644_splice|DYSF_ENST00000409582.3_Splice_Site_p.D660_splice|DYSF_ENST00000409744.1_Splice_Site_p.D630_splice|DYSF_ENST00000429174.2_Splice_Site_p.D643_splice|DYSF_ENST00000410041.1_Splice_Site_p.D661_splice|DYSF_ENST00000410020.3_Splice_Site_p.D661_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	643						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTCTTTGACGGTGAGGCAG	0.587000													24	43					0	0	0.091800	0	0
GDA	9615	broad.mit.edu	37	9	74865707	74865707	+	Missense_Mutation	SNP	C	C	T	rs62562043		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:74865707C>T	ENST00000376986.1	+	14	1398	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L	GDA_ENST00000376989.3_Missense_Mutation_p.P407L|GDA_ENST00000358399.3_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.P468L			Q9Y2T3	GUAD_HUMAN	guanine deaminase	0					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCCCATCCTCCACCATTTCCT	0.333000													72	83					0	0	0.048971	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374138	113374138	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:113374138G>A	ENST00000316407.4	-	7	6801	c.6391C>T	c.(6391-6393)Cct>Tct	p.P2131S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P2131S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2131					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATCTGATTAGGAAAATAGGGG	0.428000													28	46					0	0	0.037714	0	0
XIRP2	129446	broad.mit.edu	37	2	168100738	168100738	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:168100738A>C	ENST00000409195.1	+	9	2925	c.2836A>C	c.(2836-2838)Aag>Cag	p.K946Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K946Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K724Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	771					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						AGGAGATGTGAAGAATTACAC	0.333000													12	12					0	0	0.105934	0	0
CARF	79800	broad.mit.edu	37	2	203839124	203839124	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:203839124C>T	ENST00000320443.8	+	12	2442	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	CARF_ENST00000545253.1_Missense_Mutation_p.P379S|CARF_ENST00000438828.2_Missense_Mutation_p.P467S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.P391S|CARF_ENST00000402905.2_Missense_Mutation_p.P467S|CARF_ENST00000428585.1_Missense_Mutation_p.P391S|CARF_ENST00000414439.1_Missense_Mutation_p.P365S					calcium responsive transcription factor																		ATCTTTTTTTCCAACTGTAAA	0.328000													104	177					0	0	0.048971	0	0
DNAH8	1769	broad.mit.edu	37	6	38885838	38885838	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:38885838G>A	ENST00000359357.3	+	68	10049	c.9795G>A	c.(9793-9795)ggG>ggA	p.G3265G	DNAH8_ENST00000449981.2_Silent_p.G3482G|DNAH8_ENST00000441566.1_Silent_p.G3229G					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						AAGTCTGTGGGAATGTGGCTG	0.388000													16	43					0	0	0.028581	0	0
PDE1C	5137	broad.mit.edu	37	7	31855568	31855568	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:31855568C>T	ENST00000396184.3	-	16	1987	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	PDE1C_ENST00000321453.7_Missense_Mutation_p.E595K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E595K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E595K|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.E655K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	595					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E595K(4)|p.E655K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GATGACTTCTCGGCTTTGGAG	0.443000													150	119					0	0	0.048971	0	0
DNAH10	196385	broad.mit.edu	37	12	124332555	124332555	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:124332555C>T	ENST00000409039.3	+	32	5533	c.5508C>T	c.(5506-5508)acC>acT	p.T1836T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1836	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T428T(1)|p.T1836T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCAGGAACCGGCAAAACCG	0.557000													48	80					0	0	0.048971	0	0
WFIKKN1	117166	broad.mit.edu	37	16	681328	681328	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:681328G>A	ENST00000319070.2	+	1	397	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	25						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGCTGCCAGGGCTGGGGAGCC	0.726000													8	16					0	0	0.038147	0	0
LRRC30	339291	broad.mit.edu	37	18	7231534	7231534	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr18:7231534C>G	ENST00000383467.2	+	1	412	c.398C>G	c.(397-399)cCg>cGg	p.P133R		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	133										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACAGAGGTGCCGGCCGAGCTG	0.592000													10	21					0	0	0.058154	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425608	143425608	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143425608G>A	ENST00000524325.1	-	4	639	c.464C>T	c.(463-465)gCc>gTc	p.A155V	TSNARE1_ENST00000307180.3_Missense_Mutation_p.A155V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A155V|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	155					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGTGGGCTCGGCCTTCAGCAG	0.637000													22	27					0	0	0.062417	0	0
ZNF808	388558	broad.mit.edu	37	19	53056989	53056989	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:53056989C>T	ENST00000359798.4	+	5	1000	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGCAATACCTTGCATGCCA	0.398000													37	76					0	0	0.080422	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569486	99569486	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:99569486C>T	ENST00000331335.5	-	5	1504	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R105Q|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R345Q|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R105Q	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	345						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTGCTTTTCGTAAAGACCT	0.443000													51	103					0	0	0.048971	0	0
FAM151A	338094	broad.mit.edu	37	1	55080522	55080522	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:55080522C>T	ENST00000302250.2	-	4	586	c.426G>A	c.(424-426)ctG>ctA	p.L142L	FAM151A_ENST00000371304.2_Silent_p.L142L|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	142						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCTTGAAGTCCAGTTTGATGC	0.567000													18	56					0	0	0.043863	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529669	80529669	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:80529669G>A	ENST00000295057.3	-	2	1932	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H426Y|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	426						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCACCTTGTGGATCTGCACG	0.657000										HNSCC(69;0.2)			32	33					0	0	0.054565	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													5	41					0	0	0.038147	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054583	67054583	+	Missense_Mutation	SNP	C	C	T	rs149863845		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:67054583C>T	ENST00000295568.4	+	3	1245	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	KBTBD8_ENST00000417314.2_Missense_Mutation_p.R398C|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	398										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCGGAGGTCGTGTTTATGA	0.443000													34	78					0	0	0.064281	0	0
OR52M1	119772	broad.mit.edu	37	11	4567205	4567205	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:4567205C>T	ENST00000360213.1	+	1	785	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTTTCTTCCCTGATTCAC	0.502000													23	40					0	0	0.062417	0	0
NLRP8	126205	broad.mit.edu	37	19	56467098	56467098	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:56467098C>A	ENST00000291971.3	+	3	1745	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	NLRP8_ENST00000590542.1_Missense_Mutation_p.F558L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	558						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGACTTTTCTTATTCGGTT	0.458000													24	27					1.22574e-08	1.24102e-08	0.069288	1	0
GPR158	57512	broad.mit.edu	37	10	25886955	25886955	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:25886955G>A	ENST00000376351.3	+	11	2759	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	800						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAACACAGGGAAATCCAAGG	0.547000													33	50					0	0	0.059317	0	0
CNTN4	152330	broad.mit.edu	37	3	2787337	2787337	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:2787337C>T	ENST00000397461.1	+	5	698	c.314C>T	c.(313-315)tCg>tTg	p.S105L	CNTN4_ENST00000418658.1_Missense_Mutation_p.S105L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S105L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	105	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCGACAAACTCGTTTGGAACA	0.408000													28	36					0	0	0.037714	0	0
SIL1	64374	broad.mit.edu	37	5	138456734	138456734	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:138456734G>A	ENST00000394817.2	-	3	373	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SIL1_ENST00000265195.5_Silent_p.A78A|SIL1_ENST00000509534.1_Silent_p.A85A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	78	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGGCTGAAGGGCCTGCCACT	0.552000									Marinesco-Sjgren syndrome				41	33					0	0	0.048971	0	0
KCNT2	343450	broad.mit.edu	37	1	196197465	196197465	+	Splice_Site	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:196197465T>A	ENST00000367433.5	-	27	3326	c.3224_splice	c.e27-1	p.V1075_splice	KCNT2_ENST00000294725.8_Splice_Site_p.V1099_splice|KCNT2_ENST00000367431.4_Splice_Site_p.V1033_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1099						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAATTAAGTATCTAATAAAAG	0.358000													10	22					0	0	0.058154	0	0
TEC	7006	broad.mit.edu	37	4	48140986	48140986	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:48140986T>C	ENST00000381501.3	-	16	1746	c.1589A>G	c.(1588-1590)aAg>aGg	p.K530R		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	530	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACACCACTTCACAGGAAA	0.453000													19	30					0	0	0.049695	0	0
ADCY8	114	broad.mit.edu	37	8	131797658	131797658	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:131797658C>T	ENST00000286355.5	-	16	5216	c.3124G>A	c.(3124-3126)Gcc>Acc	p.A1042T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A911T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGACACGGCCATGTAGGTG	0.502000										HNSCC(32;0.087)			32	34					0	0	0.050027	0	0
UNC13C	440279	broad.mit.edu	37	15	54799319	54799319	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:54799319T>C	ENST00000545554.1	+	22	5306	c.5306T>C	c.(5305-5307)aTc>aCc	p.I1769T	UNC13C_ENST00000260323.11_Missense_Mutation_p.I1769T|UNC13C_ENST00000537900.1_Missense_Mutation_p.I1767T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1769	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTAGACTATCAATAAAGTG	0.313000													5	8					0	0	0.029380	0	0
USHBP1	83878	broad.mit.edu	37	19	17369132	17369132	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:17369132C>T	ENST00000252597.3	-	8	1282	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	USHBP1_ENST00000431146.2_Missense_Mutation_p.G306E	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	370							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCTTCGTCTCCTGCTCCTGA	0.572000													24	67					0	0	0.034045	0	0
AHCY	191	broad.mit.edu	37	20	32879333	32879333	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:32879333G>A	ENST00000538132.1	-	5	752	c.366C>T	c.(364-366)atC>atT	p.I122I	AHCY_ENST00000217426.2_Silent_p.I150I|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	150					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGATGCCTCGGATGCCTAAAC	0.527000													30	35					0	0	0.034045	0	0
KIF26B	55083	broad.mit.edu	37	1	245848736	245848736	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:245848736C>T	ENST00000366518.4	+	9	1412	c.1308C>T	c.(1306-1308)agC>agT	p.S436S	KIF26B_ENST00000407071.2_Silent_p.S817S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	817					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGGGGAGAGCTCCTGCGAAG	0.657000													20	4					0	0	0.055883	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347138	89347138	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:89347138G>A	ENST00000301030.4	-	9	6272	c.5812C>T	c.(5812-5814)Ccc>Tcc	p.P1938S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1938S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAAGGGACCCTCGTCC	0.697000													21	47					0	0	0.062417	0	0
SMYD1	150572	broad.mit.edu	37	2	88367503	88367503	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:88367503C>T	ENST00000419482.2	+	1	205	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SMYD1_ENST00000444564.2_Silent_p.S40S|SMYD1_ENST00000438570.1_Silent_p.S40S	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGGCTTATTCCGCAGTGGTTT	0.493000													55	73					0	0	0.048971	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065969	33065969	+	Silent	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:33065969T>C	ENST00000373510.4	+	5	1504	c.1275T>C	c.(1273-1275)gtT>gtC	p.V425V	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCCAACAGGTTGATGATAGTG	0.403000													36	19					0	0	0.086207	0	0
CD1C	911	broad.mit.edu	37	1	158262565	158262565	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:158262565C>T	ENST00000368170.3	+	4	1069	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	264	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GACATGGTATCTTCAGGTGAT	0.527000													41	64					0	0	0.111260	0	0
TANGO6	79613	broad.mit.edu	37	16	68934432	68934432	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:68934432G>A	ENST00000261778.1	+	8	1485	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTACTAAGCAGAGTGTGTCTC	0.363000													17	75					0	0	0.038395	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262444	140262444	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:140262444G>A	ENST00000289272.2	+	1	591	c.591G>A	c.(589-591)agG>agA	p.R197R	PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.R197R|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTACTGAGGAAAACACTGG	0.443000													19	20					0	0	0.043863	0	0
THNSL2	55258	broad.mit.edu	37	2	88474315	88474315	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:88474315C>T	ENST00000324166.5	+	2	2072	c.381C>T	c.(379-381)ttC>ttT	p.F127F	THNSL2_ENST00000377254.3_Silent_p.F127F|THNSL2_ENST00000343544.4_Silent_p.F127F|THNSL2_ENST00000402102.1_Silent_p.F127F|THNSL2_ENST00000358591.2_Silent_p.F127F|THNSL2_ENST00000449349.1_Silent_p.F95F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	127					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGCAGTACTTCCTGGAGAAGA	0.517000													29	58					0	0	0.064281	0	0
SNHG14	104472715	broad.mit.edu	37	15	25231959	25231959	+	RNA	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr15:25231959G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TAAATCCCCTGAAAATAAGAA	0.473000													6	6					0	0	0.021553	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142140	133142140	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:133142140G>A	ENST00000388996.4	-	15	2408	c.1988C>T	c.(1987-1989)aCc>aTc	p.T663I	KCNQ3_ENST00000521134.1_Missense_Mutation_p.T543I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.T651I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	663					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGCGAGGAGGTGCCCTTGGT	0.537000													45	86					0	0	0.048971	0	0
OR2G3	81469	broad.mit.edu	37	1	247769280	247769280	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:247769280C>T	ENST00000320002.2	+	1	425	c.393C>T	c.(391-393)caC>caT	p.H131H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACCCCTCCACTATGTAGTCA	0.502000													40	161					0	0	0.039052	0	0
LRP1B	53353	broad.mit.edu	37	2	141665646	141665646	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:141665646C>T	ENST00000389484.3	-	22	4291	c.3319_splice	c.e22-1	p.G1107_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1107	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGCATCTCCCTTAAGAAAA	0.398000										TSP Lung(27;0.18)			14	30					0	0	0.020292	0	0
A4GNT	51146	broad.mit.edu	37	3	137843631	137843631	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:137843631C>T	ENST00000236709.3	-	3	699	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	166					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CATCGGTGTCCATGTAGATGC	0.547000													156	306					0	0	0.048971	0	0
DOPEY2	9980	broad.mit.edu	37	21	37591677	37591677	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr21:37591677A>G	ENST00000399151.3	+	10	1222	c.1137A>G	c.(1135-1137)caA>caG	p.Q379Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	379					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGGCCTCAAGTGGTTGGGA	0.393000													34	78					0	0	0.069456	0	0
ACRV1	56	broad.mit.edu	37	11	125548100	125548100	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:125548100G>A	ENST00000533904.1	-	2	487	c.145C>T	c.(145-147)Cct>Tct	p.P49S	ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000257382.2_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000433875.1_Missense_Mutation_p.P49S|ACRV1_ENST00000453509.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	49					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCATCAGAAGGGTTTTCAAGT	0.458000													27	40					0	0	0.099896	0	0
CXorf22	170063	broad.mit.edu	37	X	35969374	35969374	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:35969374C>T	ENST00000297866.5	+	5	849	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	261										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTCCTGTTTTCTTCGGATCAT	0.403000													13	2					0	0	0.105934	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205660	73205660	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:73205660G>A	ENST00000545377.1	+	34	4761	c.4585G>A	c.(4585-4587)Ggc>Agc	p.G1529S	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G1216S|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.G449S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G1529S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G1529S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G1529S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G1529S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G1485S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GAGCCTGCTGGGCCACTGGAA	0.701000													4	7					0	0	0.014758	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952719	119952719	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:119952719C>T	ENST00000307142.4	+	4	2985	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S930L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S930L|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	930						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTATCCACTCGCCGTCTTAC	0.542000													18	37					0	0	0.049695	0	0
PDLIM1	9124	broad.mit.edu	37	10	96997712	96997712	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:96997712A>G	ENST00000329399.6	-	7	1068	c.960T>C	c.(958-960)ggT>ggC	p.G320G		NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	320					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCACTTCATAACCCTCAGGTG	0.537000													7	31					0	0	0.038147	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	C	T	rs75633112		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:119727733C>T	ENST00000541757.1	+	4	389	c.9C>T	c.(7-9)ttC>ttT	p.F3F	MARCO_ENST00000327097.4_Silent_p.F81F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000													29	66					0	0	0.050027	0	0
SEC16B	89866	broad.mit.edu	37	1	177928086	177928086	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:177928086A>G	ENST00000308284.6	-	9	1112	c.1023T>C	c.(1021-1023)atT>atC	p.I341I	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000464631.1_Silent_p.I342I|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	341					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AAAACGTCATAATATCCACCT	0.493000													4	13					0	0	0.009096	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368610	20368610	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:20368610C>T	ENST00000593655.1	-	0	199																											CTCCAACTTTCCAGAACACAT	0.473000													13	46					0	0	0.105934	0	0
CEP290	80184	broad.mit.edu	37	12	88452727	88452727	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:88452727A>G	ENST00000552810.1	-	49	7059	c.6716T>C	c.(6715-6717)gTt>gCt	p.V2239A	CEP290_ENST00000547691.2_Missense_Mutation_p.V1299A|CEP290_ENST00000309041.7_Missense_Mutation_p.V2241A|CEP290_ENST00000397838.3_Missense_Mutation_p.V1299A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2239					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTAGTTGAACTGTCATCTT	0.368000													9	24					0	0	0.069234	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:139144923G>A	ENST00000395297.1	-	20	4304	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1378										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)			107	205					0	0	0.048971	0	0
IFRD2	7866	broad.mit.edu	37	3	50329695	50329695	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:50329695G>A	ENST00000436390.1	-	4	508	c.11C>T	c.(10-12)gCc>gTc	p.A4V	IFRD2_ENST00000417626.2_Missense_Mutation_p.A4V|IFRD2_ENST00000429673.2_Missense_Mutation_p.A68V|IFRD2_ENST00000336089.4_Missense_Mutation_p.A170V			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	68							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCTTACGGGCGCGAGGCAT	0.756000													4	6					0	0	0.014758	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764785	92764785	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:92764785G>T	ENST00000318238.4	-	5	1716	c.500C>A	c.(499-501)cCt>cAt	p.P167H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P167H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P167H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	167										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)			CTGATCAAAAGGATATGGCAT	0.353000													91	58					5.84261e-33	5.96692e-33	0.048971	1	0
VIPR1	7433	broad.mit.edu	37	3	42567408	42567408	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:42567408G>A	ENST00000433647.1	+	5	823	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	VIPR1_ENST00000543411.1_Missense_Mutation_p.E61K|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.E108K|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000593621.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	108					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)		CTGCACCGACGAAGGCTGGAC	0.647000													8	14					0	0	0.069234	0	0
OR12D3	81797	broad.mit.edu	37	6	29342287	29342287	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:29342287G>A	ENST00000396806.3	-	1	781	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GAAGCAGGACGAATATATGTG	0.488000													8	20					0	0	0.047766	0	0
PAPPA	5069	broad.mit.edu	37	9	119109456	119109456	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:119109456C>T	ENST00000328252.3	+	15	4301	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	PAPPA_ENST00000534838.1_Missense_Mutation_p.S349F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1311	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGTCAATGTTCCTTCCAGTGC	0.552000													21	33					0	0	0.076483	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815823	106815823	+	RNA	SNP	T	T	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr14:106815823T>A	ENST00000390615.2	-	0	329																											AATCGGCCCTTCACGGAGTCT	0.522000													47	33					0	0	0.048971	0	0
RALYL	138046	broad.mit.edu	37	8	85774560	85774560	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:85774560C>T	ENST00000521268.1	+	6	1548	c.443C>T	c.(442-444)cCa>cTa	p.P148L	RALYL_ENST00000523850.1_Missense_Mutation_p.P75L|RALYL_ENST00000522455.1_Missense_Mutation_p.P148L|RALYL_ENST00000518566.1_Missense_Mutation_p.P137L|RALYL_ENST00000521376.1_Missense_Mutation_p.P59L|RALYL_ENST00000521695.1_Missense_Mutation_p.P148L|RALYL_ENST00000517638.1_Missense_Mutation_p.P161L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	148							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGTGTGCCTCCACCTCCCCGT	0.488000													8	24					0	0	0.047766	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362054	98362054	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:98362054C>T	ENST00000339364.5	-	16	2462	c.2343G>A	c.(2341-2343)ccG>ccA	p.P781P	PIK3AP1_ENST00000371109.3_Silent_p.P380P|PIK3AP1_ENST00000371110.2_Silent_p.P603P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	781	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGCAGCTCTCGGAGGCACCC	0.507000													23	38					0	0	0.069288	0	0
CCDC14	64770	broad.mit.edu	37	3	123663826	123663826	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:123663826T>C	ENST00000485727.1	-	5	5349	c.757A>G	c.(757-759)Att>Gtt	p.I253V	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.I253V|CCDC14_ENST00000488653.2_Missense_Mutation_p.I453V|CCDC14_ENST00000433542.2_Missense_Mutation_p.I412V|CCDC14_ENST00000310351.4_Missense_Mutation_p.I293V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	453						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AACCTCTGAATTTCTGAATCC	0.318000													11	23					0	0	0.020292	0	0
ZEB2	9839	broad.mit.edu	37	2	145158836	145158836	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:145158836G>A	ENST00000558170.2	-	7	2030	c.846C>T	c.(844-846)ttC>ttT	p.F282F	ZEB2_ENST00000409487.3_Silent_p.F282F|ZEB2_ENST00000303660.4_Silent_p.F282F|ZEB2_ENST00000539609.3_Silent_p.F258F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	282						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGCATTTGAACTTGCGAT	0.433000													47	72					0	0	0.048971	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598668	151598668	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:151598668C>T	ENST00000362032.4	+	3	442	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	113						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CATTCTCTTTCTCACTTTTAT	0.393000													24	30					0	0	0.083992	0	0
NSMCE2	286053	broad.mit.edu	37	8	126379036	126379036	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:126379036C>T	ENST00000287437.3	+	8	869	c.653C>T	c.(652-654)aCg>aTg	p.T218M	NSMCE2_ENST00000522563.1_Missense_Mutation_p.T218M|NSMCE2_ENST00000517315.1_Missense_Mutation_p.T158M|NSMCE2_ENST00000521460.1_3'UTR	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	218					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TGTAGCCACACGGATATAAGA	0.408000													78	176					0	0	0.048971	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166805	100166805	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:100166805C>T	ENST00000547776.2	-	8	1022	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.K341K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	341						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACGAATAATCCTTTTCTTGAC	0.353000													19	34					0	0	0.049695	0	0
BBS1	582	broad.mit.edu	37	11	66283386	66283386	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:66283386C>T	ENST00000419755.3	+	7	762	c.684C>T	c.(682-684)tcC>tcT	p.S228S	BBS1_ENST00000318312.7_Silent_p.S191S|BBS1_ENST00000393994.2_Silent_p.S191S|BBS1_ENST00000537537.1_Silent_p.S79S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Intron																							AACACAAGTCCAACTCCATCA	0.438000													27	39					0	0	0.037714	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532834	84532834	+	RNA	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:84532834C>T	ENST00000527857.1	+	0	2856					NR_026851.1																						ATTTCCAATTCCTTTTCCCAT	0.443000													5	3					0	0	0.014758	0	0
SZT2	23334	broad.mit.edu	37	1	43896198	43896198	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:43896198G>A	ENST00000562955.1	+	31	4341	c.4341G>A	c.(4339-4341)gaG>gaA	p.E1447E	SZT2_ENST00000372442.1_Silent_p.E605E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1504						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGTCACTGAGAGTGACCCAG	0.557000													22	75					0	0	0.076483	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025273	176025273	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:176025273G>A	ENST00000303991.4	-	2	1740	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	521						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGACAGGGGATCTCCTT	0.652000													26	34					0	0	0.099896	0	0
FAM110C	642273	broad.mit.edu	37	2	45442	45442	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:45442C>T	ENST00000327669.4	-	1	943	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	315						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCACACACCTCGGGTCCGGCT	0.632000													15	39					0	0	0.028581	0	0
THRA	7067	broad.mit.edu	37	17	38244584	38244584	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr17:38244584C>A	ENST00000450525.2	+	8	1304	c.813C>A	c.(811-813)agC>agA	p.S271R	THRA_ENST00000546243.1_Missense_Mutation_p.S271R|THRA_ENST00000394121.4_Missense_Mutation_p.S271R|THRA_ENST00000584985.1_Missense_Mutation_p.S271R|THRA_ENST00000264637.4_Missense_Mutation_p.S271R	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	271	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ACCCTGAGAGCGACACCCTGA	0.622000													28	50					2.4375e-19	2.48455e-19	0.034045	1	0
ARL11	115761	broad.mit.edu	37	13	50204908	50204908	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:50204908G>A	ENST00000282026.1	+	2	660	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	109					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGTCCTGAACGACCCCAACAT	0.567000													40	55					0	0	0.111260	0	0
POLR2B	5431	broad.mit.edu	37	4	57889516	57889516	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:57889516G>A	ENST00000381227.1	+	20	2949	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	POLR2B_ENST00000441246.2_Missense_Mutation_p.D839N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D846N|POLR2B_ENST00000431623.2_Missense_Mutation_p.D771N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	846					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418000													16	22					0	0	0.038395	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971116	21971116	+	Missense_Mutation	SNP	G	G	A	rs11552823		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:21971116G>A	ENST00000304494.5	-	2	512	c.242C>T	c.(241-243)cCc>cTc	p.P81L	CDKN2A_ENST00000494262.1_Missense_Mutation_p.P30L|CDKN2A_ENST00000361570.3_Silent_p.T136T|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P30L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P81L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P30L|CDKN2A_ENST00000530628.2_Silent_p.T95T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P30L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P81L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P30L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P81L|CDKN2A_ENST00000579755.1_Silent_p.T95T	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	81			P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding).		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.P81L(8)|p.P81H(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(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)		GTCGTGCACGGGTCGGGTGAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			55	31					0	0	0.048971	0	0
OR1L8	138881	broad.mit.edu	37	9	125330436	125330436	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr9:125330436G>A	ENST00000304865.2	-	1	402	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTTGCCCAAGGCATAGAGAA	0.507000													19	39					0	0	0.055883	0	0
MUC16	94025	broad.mit.edu	37	19	9091577	9091577	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:9091577C>T	ENST00000397910.4	-	1	441	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	80	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						GACATCACCCCCAAAGACTGG	0.532000													30	61					0	0	0.045705	0	0
ZNF831	128611	broad.mit.edu	37	20	57766887	57766887	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr20:57766887C>T	ENST00000371030.2	+	1	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	271						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)					GTCCAGGGTCCGCATTTGCCG	0.642000													38	58					0	0	0.111260	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	8					0	0	0.004672	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													4	65					0	0	0.029380	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032374	21032374	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr12:21032374C>T	ENST00000381545.3	+	11	1359	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	LST3_ENST00000540229.1_Silent_p.I380I|SLCO1B3_ENST00000553473.1_Silent_p.I380I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.I380I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	380					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTAGGAATCATAACCATTC	0.264000													3	18					0	0	0.004672	0	0
THBS3	7059	broad.mit.edu	37	1	155171226	155171226	+	Silent	SNP	A	A	G			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr1:155171226A>G	ENST00000368378.3	-	11	1331	c.1311T>C	c.(1309-1311)aaT>aaC	p.N437N	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000428962.2_Silent_p.N287N|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.N317N	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	437	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACACTGCACCATTGCGTTCAA	0.622000													27	61					0	0	0.037714	0	0
TRPM8	79054	broad.mit.edu	37	2	234905064	234905064	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr2:234905064C>T	ENST00000324695.4	+	22	3074	c.3034C>T	c.(3034-3036)Ccc>Tcc	p.P1012S	TRPM8_ENST00000433712.2_Missense_Mutation_p.P590S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1012						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCAATATCCCCTTCCCCTT	0.522000													25	49					0	0	0.099896	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:139297773G>A	ENST00000406164.1	-	4	686	c.123C>T	c.(121-123)atC>atT	p.I41I	NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000296202.7_Silent_p.I78I			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587000													9	33					0	0	0.069234	0	0
RAP2A	5911	broad.mit.edu	37	13	98116528	98116528	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:98116528C>T	ENST00000245304.4	+	2	633	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	128					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AAGTATCGTCCAGCGAAGGCA	0.453000													31	34					0	0	0.041601	0	0
AKAP11	11215	broad.mit.edu	37	13	42875615	42875615	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr13:42875615A>C	ENST00000025301.2	+	8	2908	c.2733A>C	c.(2731-2733)ttA>ttC	p.L911F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	911					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTAAATCTTTAAAGGAGAAAA	0.378000													13	22					0	0	0.105934	0	0
BTN1A1	696	broad.mit.edu	37	6	26506938	26506938	+	Nonsense_Mutation	SNP	G	G	A	rs144262313		TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr6:26506938G>A	ENST00000244513.6	+	4	803	c.737G>A	c.(736-738)tGg>tAg	p.W246*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	246						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTGACTCCCTGGATAGTGGCT	0.463000													71	133					0	0	0.048971	0	0
RGL4	266747	broad.mit.edu	37	22	24034700	24034700	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr22:24034700G>A	ENST00000290691.5	+	2	1528	c.358G>A	c.(358-360)Gag>Aag	p.E120K	RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	120	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGAGCCCAACGAGGCCAAGCC	0.567000													16	27					0	0	0.024245	0	0
PRR22	163154	broad.mit.edu	37	19	5783075	5783075	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:5783075G>A	ENST00000419421.2	-	3	1287	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	393										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TTCCTTCCCGGCTTTCCCTTC	0.697000													20	24					0	0	0.055883	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563902	58563902	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr19:58563902C>T	ENST00000282326.1	+	5	757	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCAGCACTCCCCGAGGAAA	0.652000													29	41					0	0	0.041601	0	0
FNDC9	408263	broad.mit.edu	37	5	156770005	156770005	+	Silent	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:156770005C>T	ENST00000312349.4	-	2	727	c.540G>A	c.(538-540)ctG>ctA	p.L180L	CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	180						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCATTTCCACCAGGGGGAGCC	0.627000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	86					0	0	0.062417	0	0
DNAH5	1767	broad.mit.edu	37	5	13753350	13753350	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr5:13753350C>T	ENST00000265104.4	-	63	10968	c.10864G>A	c.(10864-10866)Gaa>Aaa	p.E3622K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3622	AAA 5 (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)					ACCTGGAGTTCATTTCGGCTT	0.333000									Kartagener syndrome				4	27					0	0	0.009096	0	0
EXOSC7	23016	broad.mit.edu	37	3	45048959	45048959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr3:45048959delC	ENST00000265564.7	+	7	711	c.663delC	c.(661-663)tgfs	p.C221fs	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	221					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AGGAGGCCTGCTCGCTGGCCA	0.617													20	48	---	---	---	---					
LOC101929468	101929468	broad.mit.edu	37	4	105571076	105571076	+	RNA	DEL	T	T	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr4:105571076delT	ENST00000500179.1	+	0	344																											gagtaatcccttccactgccc	0.483													2	4	---	---	---	---					
ARC	23237	broad.mit.edu	37	8	143695114	143695114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr8:143695114delG	ENST00000356613.2	-	1	1719	c.519delC	c.(517-519)gcfs	p.A173fs		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	173					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GCGGGGTGATGGCGTAGGGGC	0.741													2	4	---	---	---	---					
ARMC4	55130	broad.mit.edu	37	10	28151489	28151489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr10:28151489delT	ENST00000305242.5	-	18	2765	c.2673delA	c.(2671-2673)aafs	p.K891fs	ARMC4_ENST00000537576.1_Frame_Shift_Del_p.K583fs|ARMC4_ENST00000545014.1_Frame_Shift_Del_p.K416fs	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	891							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						TGTTATCTGATTTCAGTAAAT	0.353													14	27	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													2	4	---	---	---	---					
SBK1	388228	broad.mit.edu	37	16	28328743	28328743	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chr16:28328743delC	ENST00000341901.4	+	2	820	c.31delC	c.(31-33)ccfs	p.P11fs		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	11						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGAGCCGCCCCGCTCCCT	0.667											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34	---	---	---	---					
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Translation_Start_Site	INS	-	-	T			TCGA-DA-A1HY-06A-11D-A19A-08	TCGA-DA-A1HY-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88f2c496-3eb4-4c03-b3a5-8d5a55803aaf	567a575c-97b9-475c-8954-5f4e868f0a83	g.chrX:135961585_135961586insT	ENST00000570135.1	-	0	155_156				RBMX_ENST00000431446.3_Start_Codon_Ins|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Start_Codon_Ins|RBMX_ENST00000562646.1_Start_Codon_Ins			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													7	44	---	---	---	---