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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MTOR	2475	broad.mit.edu	37	1	11169428	11169428	+	Splice_Site	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:11169428C>A	uc001asd.3	-	56	7569	c.7448_splice	c.e56-1	p.I2483_splice	MTOR_uc001asc.3_Splice_Site_p.I688_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2483	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCGTCTCCAACTGGAATACAC	0.388000														55			43		1.19451e-25	1.20877e-25	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95523504	95523504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:95523504G>A	uc003ygo.2	-	12	3370	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F	KIAA1429_uc003ygp.3_Missense_Mutation_p.S1100F|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1100					RNA splicing|mRNA processing	nucleus		p.L1099I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGATTGAAGAAAGAACTTC	0.373000														31			13		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147608	115147608	+	Silent	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:115147608A>G	uc001efd.1	-	10	2304	c.1602T>C	c.(1600-1602)ctT>ctC	p.L534L	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.L477L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	534	UDENN.							p.Y534D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATAACTTTAAGTCTCTCTT	0.348000														45			19		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984731	68984731	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:68984731G>A	uc003xxv.1	+	14	1521	c.1494_splice	c.e14-1	p.R498_splice	PREX2_uc003xxu.1_Splice_Site_p.R498_splice|PREX2_uc011lez.1_Splice_Site_p.R433_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	498	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.D499Y(2)		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						CCTTTATAGAGATAAAGATTA	0.303000														107			38		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096182	124096182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:124096182C>T	uc010saf.2	+	0	785	c.785C>T	c.(784-786)gCt>gTt	p.A262V		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	262						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTGGCTGTTGCTGTTTTCTTT	0.498000														6			45		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486734	131486734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:131486734G>A	uc002trv.2	+	0	92	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	4						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGGGGATGAGCTGGCACC	0.592000														88			111		0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43273599	43273599	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:43273599C>G	uc003ouu.1	-	7	568	c.568G>C	c.(568-570)Gat>Cat	p.D190H		NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	71						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGCCCACATCGCCAATGTTC	0.542000														50			24		0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111289542	111289543	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:111289542_111289543CC>TT	uc001vrc.3	+	8	930_931	c.839_840CC>TT	c.(838-840)tcc>tTT	p.S280F	CARKD_uc010tjj.2_Missense_Mutation_p.S262F|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Missense_Mutation_p.S170F|CARKD_uc010tjl.2_Missense_Mutation_p.S149F|CARKD_uc001vrb.3_Missense_Mutation_p.S280F|CARKD_uc021rmn.1_Missense_Mutation_p.S59F	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	280	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CTGTCGGGCTCCCTGGGCGTCC	0.564000														18			16		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849235	54849235	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54849235G>A	uc002qfj.3	-	3	684	c.627C>T	c.(625-627)ccC>ccT	p.P209P	LILRA4_uc002qfi.3_Silent_p.P143P	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	209	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGGGTCACTGGGTTCCGACC	0.572000														39			26		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703853	113703853	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:113703853T>C	uc011lwo.2	-	1	646	c.644A>G	c.(643-645)aAc>aGc	p.N215S	LPAR1_uc004bfa.3_Missense_Mutation_p.N214S|LPAR1_uc011lwm.2_Missense_Mutation_p.N215S|LPAR1_uc004bfc.3_Missense_Mutation_p.N214S|LPAR1_uc011lwn.2_Missense_Mutation_p.N196S|LPAR1_uc004bfb.3_Missense_Mutation_p.N214S|LPAR1_uc010mub.3_Missense_Mutation_p.N214S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	214					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.L215M(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGTCACCAAGTTGAAAATGGC	0.468000														55			90		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534880	18534880	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:18534880C>T	uc002wra.2	+	18	2454	c.1993_splice	c.e18-1	p.T665_splice	SEC23B_uc010zsb.2_Splice_Site_p.T647_splice|SEC23B_uc002wrb.2_Splice_Site_p.T665_splice|SEC23B_uc002wqz.2_Splice_Site_p.T665_splice|SEC23B_uc002wrc.2_Splice_Site_p.T665_splice	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	665					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding	p.T665S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCTGTGTAGACCATAGCCCAG	0.468000														27			25		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170428878	170428878	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:170428878G>A	uc003isd.2	-	21	2477	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	NEK1_uc003ise.2_Silent_p.I589I|NEK1_uc003isb.2_Silent_p.I605I|NEK1_uc003isc.2_Silent_p.I561I|NEK1_uc003isf.2_Silent_p.I536I	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338000														24			27		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913716	6913716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:6913716G>A	uc010rau.2	-	0	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTGTGTCTGATTTATCTGT	0.413000														54			51		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265380	140265380	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:140265380T>A	uc003etn.3	+	9	1721	c.1531T>A	c.(1531-1533)Ttt>Att	p.F511I	CLSTN2_uc003etm.2_Missense_Mutation_p.F511I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	511					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAACCACAGTTTGCTCAGTT	0.527000										HNSCC(16;0.037)				37			34		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89657032	89657032	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89657032G>A	uc001dnb.3	-	5	944	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	276						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTGCATAAGGAAATGCCTTT	0.413000														53			31		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584862	7584862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:7584862C>T	uc003mxp.1	+	23	7646	c.7367C>T	c.(7366-7368)tCa>tTa	p.S2456L	DSP_uc003mxq.1_Missense_Mutation_p.S1857L|DSP_uc021yle.1_Missense_Mutation_p.S2013L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2456	Globular 2.				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)		GTGCAGACATCACAAAAGAAT	0.418000														66			24		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351346	35351346	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:35351346C>T	uc001byc.3	-	4	1647	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	549					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)				GGGGCGGGGCCTGGCTTCCCG	0.751000														8			11		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130943047	130943047	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:130943047G>A	uc011mas.2	-	5	890	c.725C>T	c.(724-726)cCa>cTa	p.P242L	CIZ1_uc004btr.3_Missense_Mutation_p.P212L|CIZ1_uc004bts.3_Missense_Mutation_p.P183L|CIZ1_uc011maq.2_Missense_Mutation_p.P207L|CIZ1_uc004btu.3_Missense_Mutation_p.P188L|CIZ1_uc004btt.3_Missense_Mutation_p.P212L|CIZ1_uc011mar.2_Missense_Mutation_p.P111L|CIZ1_uc004btw.3_Missense_Mutation_p.P212L|CIZ1_uc004btv.3_Missense_Mutation_p.P212L|CIZ1_uc004btx.2_Missense_Mutation_p.P188L	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	212						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGACCCCTCTGGGGGGTCTGA	0.562000														65			26		0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877095	45877095	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:45877095C>T	uc003cox.1	-	2	448	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	LZTFL1_uc003coy.1_Missense_Mutation_p.E87K|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	104										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTCAAGTTCAGAGATGTCT	0.388000														71			45		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722126	141722126	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141722126C>T	uc003vwy.3	+	6	823	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	257	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)	GCTCTCCACTCGACTGCCTAG	0.522000														137			54		0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292073	17292073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:17292073C>T	uc003nbz.4	+	3	438	c.434C>T	c.(433-435)tCc>tTc	p.S145F	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Missense_Mutation_p.S87F|RBM24_uc003nca.3_Missense_Mutation_p.S100F|RBM24_uc011diy.2_Missense_Mutation_p.P59S|RBM24_uc011diz.2_Missense_Mutation_p.P44S	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	145	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GCTGCCGCCTCCACCACCCCT	0.577000														111			146		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6950463	6950463	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6950463G>A	uc001qrd.3	+	2	417	c.12G>A	c.(10-12)atG>atA	p.M4I	GNB3_uc001qrc.3_5'UTR|GNB3_uc009zfe.3_Missense_Mutation_p.M4I	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	4					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGGGGGAGATGGAGCAACTGC	0.612000														11			16		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40766904	40766904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:40766904C>T	uc001cfh.1	-	31	2132	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	COL9A2_uc001cfi.1_Missense_Mutation_p.A493T	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	674	Nonhelical region 1 (NC1).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCATAGGCCGAAGCTCCA	0.682000														27			24		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957220	143957220	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:143957220C>T	uc010mey.3	-	7	1249	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	CYP11B1_uc010mex.3_Silent_p.E19E|CYP11B1_uc003yxh.3_Silent_p.E59E|CYP11B1_uc003yxi.3_Silent_p.E343E|CYP11B1_uc003yxj.3_Silent_p.E343E	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	343					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)	CGGCCAGGCTCTCCTGGCGCA	0.647000									Familial Hyperaldosteronism type I					231			83		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62664308	62664308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62664308C>T	uc002yho.3	+	20	2956	c.2788C>T	c.(2788-2790)Ctt>Ttt	p.L930F	PRPF6_uc002yhp.3_Missense_Mutation_p.L890F|LINC00176_uc002yhq.3_5'Flank|LINC00176_uc011abq.2_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	930					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CGGGGACATCCTTAGGCTGGT	0.632000														48			37		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149523330	149523330	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:149523330G>A	uc010lpk.3	+	99	14389	c.14389G>A	c.(14389-14391)Gag>Aag	p.E4797K	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4805	TSP type-1 24.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACACAGAGCAACGGCA	0.667000														21			41		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320396	56320396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56320396C>T	uc010ygf.2	-	4	2291	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	NLRP11_uc002qlz.3_Missense_Mutation_p.G428E|NLRP11_uc002qmb.3_Missense_Mutation_p.G428E|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	527							ATP binding	p.V526V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTTCATGTATCCCACCGAGTA	0.428000														109			79		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449833	105449833	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:105449833G>T	uc022cca.1	+	0	408	c.408G>T	c.(406-408)aaG>aaT	p.K136N	MUM1L1_uc004emg.2_Missense_Mutation_p.K136N|MUM1L1_uc004emf.2_Missense_Mutation_p.K136N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	136										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATACCGGAAGGATGAAGGTG	0.428000														3			20		3.01185e-09	3.02851e-09	1	1	0
HFM1	164045	broad.mit.edu	37	1	91784645	91784645	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:91784645C>T	uc001doa.4	-	24	2901	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.L613L|HFM1_uc001dob.4_Intron|HFM1_uc010osv.1_Silent_p.L618L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	934	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAATTTTTTCCAGTTGTTTGG	0.333000														40			31		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116418932	116418932	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116418932G>A	uc003vij.3	+	16	3630	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	MET_uc010lkh.3_Missense_Mutation_p.R1166Q|MET_uc011knj.2_Missense_Mutation_p.R718Q	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1148	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.R1166Q(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCTGCCTGCGAAGTGAAGGG	0.448000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					103			41		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105511567	105511567	+	Silent	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:105511567A>G	uc003yma.3	-	3	580	c.453T>C	c.(451-453)ggT>ggC	p.G151G	LRP12_uc003ymb.3_Silent_p.G132G	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	151	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCTGAAACCCTTTCTAG	0.378000														118			34		0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91701232	91701232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:91701232C>T	uc021ryk.1	-	0	163	c.163G>A	c.(163-165)Gag>Aag	p.E55K	GPR68_uc001xzg.3_Missense_Mutation_p.E55K|GPR68_uc001xzh.3_Missense_Mutation_p.E55K	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	55					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		ACGCCCAGCTCGTTCCGGGCC	0.627000														22			14		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103830	15103830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15103830C>T	uc001int.2	+	4	684	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Nonsense_Mutation_p.Q91*	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	91					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GCCAGTCATCCAGGATAAACC	0.388000														90			58		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312111	40312111	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:40312111T>C	uc002hzb.2	-	15	3334	c.3001A>G	c.(3001-3003)Acc>Gcc	p.T1001A		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	1001					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCTTGGGGTTGGGGGTGAG	0.652000														34			18		0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100367789	100367789	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:100367789C>T	uc004axn.3	-	7	1577	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	TSTD2_uc004axo.3_Silent_p.R137R|TSTD2_uc004axp.1_Silent_p.R137R	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	363	Rhodanese.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCTGAACCCCGCTCACAGC	0.552000														73			31		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225792	9225792	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9225792G>A	uc021uoi.1	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F	OR7G1_uc002mks.1_Silent_p.F216F	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GAGAATAAGAGAAAATTATTC	0.413000														38			29		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49392633	49392633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:49392633C>T	uc001jgi.3	-	19	2891	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E822K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E823K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	854	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATAATTAATTCTATGTTGTCA	0.428000														27			16		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893807	16893807	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:16893807G>A	uc009vos.1	-	24	3594	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	NBPF1_uc009vot.1_Silent_p.V360V|NBPF1_uc001ayz.1_Silent_p.V360V|NBPF1_uc010oce.1_Silent_p.V631V	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	902	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCCTGCAAGACTTCAGGCC	0.488000														778			35		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462775	21462775	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21462775C>T	uc003cce.3	-	7	1527	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	373						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCAGGAGTGCCGGAGGAAGCG	0.557000														34			15		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689424	25689424	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25689424C>T	uc003nfb.3	+	7	755	c.552C>T	c.(550-552)ttC>ttT	p.F184F	SCGN_uc010jpz.3_Silent_p.F75F	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	184	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGAAAACTTCCTTCTCCAAT	0.373000														20			10		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506763	37506763	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:37506763T>G	uc021ppc.1	+	32	3155	c.3056T>G	c.(3055-3057)aTa>aGa	p.I1019R	ANKRD30A_uc001iza.1_Missense_Mutation_p.I1019R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1075						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						GCTCTCAGAATACAAGATATA	0.279000														25			16		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111296389	111296389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:111296389G>A	uc003dxw.3	+	3	754	c.584G>A	c.(583-585)gGt>gAt	p.G195D	CD96_uc003dxv.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	195	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTTCTAAGGGTATAAAGGTA	0.388000									Opitz Trigonocephaly syndrome					75			50		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842575	14842575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:14842575C>T	uc003zlm.3	-	9	2293	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	493					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCACGAAGTCTTTGGTGGAG	0.522000														4			76		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998089	124998089	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:124998089G>A	uc003ehx.4	-	5	948	c.462C>T	c.(460-462)atC>atT	p.I154I	SLC12A8_uc003ehw.4_5'UTR|ZNF148_uc003ehz.4_Silent_p.I154I|ZNF148_uc010hsa.3_Silent_p.I154I|ZNF148_uc003eia.4_Silent_p.I154I|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	154					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTATTGTAAGGATCTAGTTCA	0.308000														38			16		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36228010	36228010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:36228010G>A	uc021usv.1	+	32	7396	c.7396G>A	c.(7396-7398)Ggc>Agc	p.G2466S	MLL2_uc021usu.1_Missense_Mutation_p.G1280S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5295	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q2466*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGACTCCTGGGCATCCACCA	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				19			6		0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25669526	25669526	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:25669526C>T	uc001bke.3	+	2	340	c.168C>T	c.(166-168)taC>taT	p.Y56Y	TMEM50A_uc010oeq.2_Silent_p.Y56Y|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	56						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		ACCACTCATACCATGCCTGTG	0.363000														55			65		0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3205964	3205964	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3205964C>T	uc002lxi.3	+	9	1390	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.3_Silent_p.T57T	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	412					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCTGACCCGTAACACGA	0.532000														141			75		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506328	6506328	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:6506328C>T	uc001iji.1	-	11	1575	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	PRKCQ_uc001ijj.2_Silent_p.G464G|PRKCQ_uc009xim.2_Silent_p.G464G|PRKCQ_uc009xin.2_Silent_p.G428G|PRKCQ_uc010qax.2_Silent_p.G339G	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	464	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACATTAAGTCCCCTCCGTTGA	0.383000														149			143		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320295	38320295	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:38320295C>T	uc010abx.3	-	2	911	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E226K|TRPC4_uc001uws.3_Missense_Mutation_p.E226K|TRPC4_uc010tey.2_Missense_Mutation_p.E226K|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.E226K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	226					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTGAAGTTCCCAACTTAAC	0.478000														42			35		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862387	14862387	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:14862387C>T	uc003bzc.3	+	0	1919	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	FGD5_uc011avk.2_Silent_p.S603S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	603					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCTTCCGTCCAGCGGCACCT	0.547000														52			47		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63685335	63685335	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:63685335A>G	uc002jfl.3	-	24	2827	c.2608_splice	c.e24-1	p.V870_splice	CEP112_uc010deo.3_Splice_Site_p.V541_splice|CEP112_uc002jfm.3_Splice_Site_p.V870_splice|CEP112_uc010dep.2_Splice_Site_p.V828_splice|CEP112_uc002jfk.3_Splice_Site_p.V126_splice	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	870						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATCTTGTAAAACCTGAAACGG	0.363000														21			39		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390634	197390634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:197390634C>T	uc001gtz.3	+	5	1885	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	CRB1_uc010poz.2_Missense_Mutation_p.S490F|CRB1_uc009wza.3_Missense_Mutation_p.S447F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S559F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S40F|CRB1_uc001gub.1_Missense_Mutation_p.S208F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	559	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I558F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTCATTTCCCACAACACC	0.458000														94			150		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068223	9068223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9068223C>T	uc002mkp.3	-	2	19427	c.19223G>A	c.(19222-19224)aGa>aAa	p.R6408K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6410	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						GATGGATGTTCTGCTAGAGGA	0.483000														65			55		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329178	18329178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18329178G>A	uc010xqc.2	-	9	1676	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	PDE4C_uc002nik.4_Missense_Mutation_p.S399F|PDE4C_uc002nil.4_Missense_Mutation_p.S399F|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Missense_Mutation_p.S169F|PDE4C_uc010ebk.3_Missense_Mutation_p.S293F|PDE4C_uc002nii.4_Missense_Mutation_p.S367F|PDE4C_uc002nif.4_Missense_Mutation_p.S168F|PDE4C_uc010ebl.3_Missense_Mutation_p.S113F	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	399					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CACATGCGTGGACTGGGCCAC	0.662000														75			91		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860407	16860407	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16860407C>T	uc002neu.4	+	5	1376	c.954C>T	c.(952-954)ctC>ctT	p.L318L	NWD1_uc002net.4_Silent_p.L183L|NWD1_uc002nev.4_Silent_p.L112L|NWD1_uc021uqg.1_Silent_p.L183L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	318							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						GCCAGGAACTCCTGGCCCGGC	0.617000														42			29		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132505635	132505635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:132505635C>T	uc001ujn.3	+	22	4611	c.4459C>T	c.(4459-4461)Ccg>Tcg	p.P1487S	EP400_uc021rgq.1_Missense_Mutation_p.P1486S|EP400_uc001ujm.3_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGCAGCCCCGTTTCAGAC	0.498000														59			54		0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76709696	76709696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:76709696G>A	uc011mqp.2	+	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	108					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AGCATCCGGGGAGTGGACTCT	0.418000														0			19		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447520	74447520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:74447520C>T	uc002fct.3	-	3	711	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	CLEC18B_uc002fcu.3_Missense_Mutation_p.G171S|CLEC18B_uc010vmu.1_Missense_Mutation_p.G91S|CLEC18B_uc010vmw.1_Missense_Mutation_p.G171S|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	171	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGTCTGGCCTGCAGAGCAC	0.602000														343			21		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2719726	2719726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:2719726C>T	uc009zdu.1	+	28	3951	c.3638C>T	c.(3637-3639)gCc>gTc	p.A1213V	CACNA1C_uc001qkc.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qke.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1193V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1193V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1213V|CACNA1C_uc001qkj.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkk.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkm.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qko.2_Missense_Mutation_p.A1213V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qku.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qks.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1193V|CACNA1C_uc009zdv.1_Missense_Mutation_p.A1190V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1193V|CACNA1C_uc001qka.1_Missense_Mutation_p.A728V|CACNA1C_uc001qki.1_Missense_Mutation_p.A929V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1213					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGGAATACGCCCTCAAGGCC	0.592000														58			66		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815131	67815131	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:67815131C>T	uc001one.3	+	11	1452	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TCIRG1_uc001ong.3_Silent_p.F225F|TCIRG1_uc021qmm.1_5'UTR|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	441					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGACTTTCTTCAGGGGCCGCT	0.632000														57			45		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56763037	56763037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:56763037C>T	uc003hbe.1	+	15	2266	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	EXOC1_uc003hbf.1_Missense_Mutation_p.T703I|EXOC1_uc003hbg.1_Missense_Mutation_p.T688I	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	703					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAGCATACACCAAACTTATC	0.348000														42			29		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3813864	3813864	+	Silent	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3813864T>A	uc002lyw.2	-	13	2208	c.2196A>T	c.(2194-2196)atA>atT	p.I732I		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	732						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGTGACAGATATGGTGACCT	0.617000														62			61		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261735	122261735	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122261735C>T	uc022akp.1	-	4	1326	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CADPS2_uc003vkg.4_Missense_Mutation_p.E2K|CADPS2_uc022akq.1_Missense_Mutation_p.E302K|CADPS2_uc010lkq.3_Missense_Mutation_p.E302K|CADPS2_uc022akr.1_Missense_Mutation_p.E302K	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	302					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACATATTCTCCATATCTTTT	0.289000														40			15		0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20781484	20781484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:20781484C>T	uc003ndd.2	+	7	793	c.626C>T	c.(625-627)tCc>tTc	p.S209F	CDKAL1_uc003nde.2_Missense_Mutation_p.S139F|CDKAL1_uc021ymk.1_Missense_Mutation_p.S209F	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	209					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GAAATCATTTCCATCAATACC	0.383000														19			62		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113700029	113700029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:113700029G>A	uc001poh.3	-	9	982	c.949C>T	c.(949-951)Cct>Tct	p.P317S	USP28_uc001pog.3_Missense_Mutation_p.P25S|USP28_uc010rwy.2_Missense_Mutation_p.P192S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P317S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	317					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|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)		ACCTGAAGAGGATACTGGCCG	0.443000														3			23		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56334926	56334926	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:56334926C>T	uc003pcy.4	-	77	14715	c.14607_splice	c.e77+1	p.E4869_splice	DST_uc003pcw.4_5'Flank|DST_uc003pcx.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7281					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAATGAGTACCTCATCTTCGA	0.368000														36			15		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045923	112045923	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:112045923C>T	uc001ebh.4	-	0	821	c.54G>A	c.(52-54)atG>atA	p.M18I	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Missense_Mutation_p.M18I	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	18					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)	TGAAAATTTCCATGGTGATGT	0.532000														26			18		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227492	38227492	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:38227492G>A	uc009vvi.3	-	2	521	c.435C>T	c.(433-435)ggC>ggT	p.G145G	EPHA10_uc001cbw.4_Silent_p.G145G	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	145						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGGCTGCCGCCTAGGCGGG	0.667000														30			21		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725526	7725526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:7725526G>A	uc003gkb.4	+	18	2527	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	SORCS2_uc011bwi.2_Missense_Mutation_p.E671K	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	843	PKD.					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						GCACCGCTACGAGAGCCCCGG	0.592000														74			35		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712658	3712658	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:3712658C>A	uc001lyh.3	-	27	4794	c.4373G>T	c.(4372-4374)gGc>gTc	p.G1458V	NUP98_uc001lyi.3_Missense_Mutation_p.G1458V|NUP98_uc001lyg.3_Missense_Mutation_p.G423V	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1475					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TATCACACAGCCAGAACCCTC	0.448000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									38			31		4.17593e-13	4.20569e-13	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768623	31768623	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:31768623C>T	uc002nsy.4	-	1	2141	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	692					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCACCAGCTCCTTGCCATTCT	0.652000														47			56		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454394	53454394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53454394G>A	uc002qal.2	-	4	985	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.L212F|ZNF816_uc002qam.2_Missense_Mutation_p.L212F	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGAATGGAGGAAATTCTTC	0.373000														33			30		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515170	47515170	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47515170G>A	uc001cqt.3	+	10	1599	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	CYP4X1_uc001cqr.3_Missense_Mutation_p.G449E|CYP4X1_uc001cqs.3_Missense_Mutation_p.G385E	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	450						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTCTCAGCTGGATCAAGGTGA	0.438000														61			37		0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627562	61627562	+	Silent	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:61627562C>A	uc010dqj.3	+	3	542	c.393C>A	c.(391-393)gtC>gtA	p.V131V	SERPINB8_uc002ljs.1_Intron	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	131						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						GTTTTATAGTCAGTTCTTTAC	0.299000														8			6		0.0293803	0.0294498	1	1	0
SORL1	6653	broad.mit.edu	37	11	121358887	121358887	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:121358887C>T	uc001pxx.3	+	3	804	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	225					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGACAGGTCCCACCCCAACA	0.522000														3			42		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081561	141081561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:141081561G>A	uc002tvj.1	-	80	13387	c.12415C>T	c.(12415-12417)Cga>Tga	p.R4139*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4139					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4139*(2)		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)		TTTTGAACTCGAAATACACCA	0.308000										TSP Lung(27;0.18)				54			79		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49805481	49805481	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:49805481C>T	uc010rhy.2	+	2	1156	c.678C>T	c.(676-678)agC>agT	p.S226S	LOC440040_uc009ymb.3_Silent_p.S226S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GGGAGCAGAGCTTTGATAAGC	0.517000														8			8		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35140024	35140024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:35140024C>T	uc002yta.1	+	10	1202	c.934C>T	c.(934-936)Cga>Tga	p.R312*	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Nonsense_Mutation_p.R196*|ITSN1_uc002ysy.3_Nonsense_Mutation_p.R312*|ITSN1_uc002ysx.3_Nonsense_Mutation_p.R275*|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Nonsense_Mutation_p.R312*|ITSN1_uc010gmg.3_Nonsense_Mutation_p.R275*|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Nonsense_Mutation_p.R312*|ITSN1_uc010gmi.3_Nonsense_Mutation_p.R275*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.R312*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.R312*|ITSN1_uc010gmk.3_Nonsense_Mutation_p.R275*|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Nonsense_Mutation_p.R312*|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Nonsense_Mutation_p.R246*|ITSN1_uc021wip.1_Nonsense_Mutation_p.R206*	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	312					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold	p.R312*(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGAAGAGTTCGATCTGGCAG	0.388000														32			29		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2028154	2028154	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:2028154C>T	uc002cnu.1	+	19	2169	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.I575I|TBL3_uc010bsc.1_Silent_p.I556I|TBL3_uc010uvt.1_Silent_p.I158I|TBL3_uc002cnw.1_Non-coding_Transcript	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	689					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCACAGCCATCCGGAGGGACC	0.687000														43			28		0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360202	54360202	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:54360202A>G	uc021onq.1	+	0	342	c.319A>G	c.(319-321)Att>Gtt	p.I107V	DIO1_uc021onp.1_Intron|DIO1_uc009vzl.3_Missense_Mutation_p.I107V|DIO1_uc001cwb.3_Missense_Mutation_p.I107V|DIO1_uc021onr.1_Missense_Mutation_p.I107V|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Non-coding_Transcript|DIO1_uc001cwf.3_Intron|DIO1_uc001cwg.3_Intron	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	107					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GAGGTGCAACATTTGGGAGTT	0.567000														11			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249865	140249865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140249865C>T	uc003lia.2	+	0	2035	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.P393S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	409	Cadherin 4.				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)			GCCCCACGTTCCCTTCAAGCT	0.597000														104			76		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060523	46060523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:46060523C>T	uc003gxb.3	-	5	894	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	248					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGAGTGATTTCAGTTGAGTTC	0.328000														41			32		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25754382	25754382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:25754382G>A	uc002rgh.3	-	8	1211	c.961C>T	c.(961-963)Cct>Tct	p.P321S	DTNB_uc010yko.2_Missense_Mutation_p.P264S|DTNB_uc002rgi.3_Missense_Mutation_p.P321S|DTNB_uc002rgj.3_Missense_Mutation_p.P321S|DTNB_uc002rgk.3_Missense_Mutation_p.P321S|DTNB_uc002rgl.3_Missense_Mutation_p.P321S|DTNB_uc002rgq.3_Missense_Mutation_p.P321S|DTNB_uc002rgn.3_Missense_Mutation_p.P117S|DTNB_uc010ykp.2_Missense_Mutation_p.P117S|DTNB_uc002rgr.1_Missense_Mutation_p.P310S|DTNB_uc010ykq.1_Missense_Mutation_p.P174S	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	321						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTGCTCAGGAAAAACAGGA	0.468000														157			47		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074910	54074911	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54074910_54074911CC>TT	uc002qbx.1	+	5	1496_1497	c.62_63CC>TT	c.(61-63)gcc>gTT	p.A21V	ZNF331_uc002qby.1_Missense_Mutation_p.A21V|ZNF331_uc002qbz.1_Missense_Mutation_p.A21V|ZNF331_uc010eqr.1_Missense_Mutation_p.A21V|ZNF331_uc002qca.1_Missense_Mutation_p.A21V|ZNF331_uc021uzg.1_Missense_Mutation_p.A21V|ZNF331_uc021uzh.1_Missense_Mutation_p.A21V|ZNF331_uc002qcb.1_Missense_Mutation_p.A21V|ZNF331_uc002qcc.1_Missense_Mutation_p.A21V|ZNF331_uc002qcd.1_Missense_Mutation_p.A21V	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGGAGTGGGCCTGTCTGAACT	0.505000			T	?	follicular thyroid adenoma									121			121		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085959	100085959	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:100085959C>T	uc003uvd.1	+	3	774	c.615C>T	c.(613-615)gaC>gaT	p.D205D	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	205																	TAGCTGGGGACCCTGATGTGG	0.647000														34			60		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012751	151012751	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151012751G>A	uc003eyt.2	-	2	644	c.283C>T	c.(283-285)Cca>Tca	p.P95S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	95						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCGAAATGGAAATGTCAGC	0.368000														34			29		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020268	8020268	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:8020268C>T	uc002gka.3	-	1	677	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ALOXE3_uc010cnr.3_Missense_Mutation_p.E60K|ALOXE3_uc010vuo.2_Missense_Mutation_p.E192K|ALOXE3_uc010vup.2_Non-coding_Transcript|TRNA_Lys_uc021tpo.1_5'Flank|TRNA_Gln_uc021tpp.1_5'Flank	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	60	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCACCCAGCTCCGCTGTGCAA	0.587000														2			10		0	0	1	0	0
RPP25	54913	broad.mit.edu	37	15	75248389	75248389	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:75248389C>T	uc002azj.1	-	0	1387	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	179					tRNA processing	nucleus	RNA binding|protein binding|ribonuclease P activity			breast(1)|lung(1)	2						GGAGCCTTCTCCAGCTGCGGG	0.692000														6			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140210084	140210084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140210084C>T	uc011dab.2	+	0	2435	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron	NM_031848	NP_114036	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G802E(1)		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)			AGTGAATTTTCATAATTAACA	0.274000														28			21		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15760852C>T	uc001ioc.1	-	1	256	c.256G>A	c.(256-258)Gat>Aat	p.D86N	ITGA8_uc010qcb.1_Missense_Mutation_p.D86N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P85P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577000														65			54		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583934	35583934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:35583934C>T	uc003xjr.2	+	9	1896	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	UNC5D_uc003xjs.2_Missense_Mutation_p.P518L|UNC5D_uc003xju.2_Missense_Mutation_p.P99L|UNC5D_uc003xjt.1_Missense_Mutation_p.P281L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	523					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAATGCATCCCAGAAATAAA	0.478000														59			40		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058509	53058509	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53058509C>T	uc010epq.1	+	4	2517	c.2340C>T	c.(2338-2340)taC>taT	p.Y780Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	780					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)		CCCTTGTATACCATCGTAGAC	0.428000														108			110		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225181	59225181	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:59225181C>T	uc010rku.2	+	0	748	c.748C>T	c.(748-750)Cac>Tac	p.H250Y		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGTGACTCTTCACTTCGTGCC	0.542000														50			33		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	T	T	rs151083424		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40136898C>T	uc021qgf.1	-	0	945	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.W315*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.W311*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(2)		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)				TGTCTTTTATCCACCAGCTGA	0.493000														29			35		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634218	70634218	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70634218C>T	uc001xly.3	-	1	1676	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E308K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E308K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E308K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	308					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCCACTTCCTTCCCTTCC	0.493000														40			34		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167407857	167407857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:167407857C>T	uc001gei.4	-	3	395	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CD247_uc001gej.4_Missense_Mutation_p.D84N|CD247_uc001gek.2_Missense_Mutation_p.D84N	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	84	ITAM 1.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TCCAAAACATCGTACTCCTCT	0.552000														183			81		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364316	5364316	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5364316G>A	uc001map.1	-	0	439	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.L147L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCTCATCAGAACTCCCAGC	0.453000														53			44		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201067	166201067	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:166201067C>T	uc002udc.3	+	15	2855	c.2565C>T	c.(2563-2565)ctC>ctT	p.L855L	SCN2A_uc002udd.3_Silent_p.L855L|SCN2A_uc002ude.3_Silent_p.L855L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	855					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTTCCAGCTCCGAGTTTTCA	0.308000														16			14		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89882179	89882179	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:89882179C>T	uc001pdf.4	+	3	496	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NAALAD2_uc009yvx.3_Silent_p.F129F|NAALAD2_uc009yvy.3_Silent_p.F129F|NAALAD2_uc001pdd.2_Silent_p.F129F|NAALAD2_uc001pde.3_Silent_p.F129F	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	129					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTAGATTTTCAAAACATCAT	0.333000														96			61		0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36966766	36966766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:36966766G>A	uc002hqu.3	-	4	734	c.581C>T	c.(580-582)tCg>tTg	p.S194L	CWC25_uc010wdv.2_Missense_Mutation_p.S131L|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	194										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATCACTACTCGAGCTTCTGTG	0.468000														13			4		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47308072	47308072	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:47308072C>T	uc001ner.1	+	14	2831	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	MADD_uc001neq.2_Silent_p.F880F|MADD_uc001nev.1_Silent_p.F837F|MADD_uc001nes.1_Silent_p.F837F|MADD_uc001net.1_Silent_p.F880F|MADD_uc009yln.1_Silent_p.F837F|MADD_uc001neu.1_Silent_p.F837F|MADD_uc001nez.2_Silent_p.F837F|MADD_uc001new.2_Silent_p.F880F|MADD_uc001nex.2_Silent_p.F880F	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	880					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCACGCCCTTCCCCAGTCTGA	0.557000														52			46		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308499	17308499	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:17308499C>T	uc010gqr.1	+	0		c.136C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		TCAACTGGTTCAAAAGCCTCC	0.408000														8			4		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327708	52327708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:52327708C>T	uc002pxt.1	+	1	891	c.707C>T	c.(706-708)tCc>tTc	p.S236F	FPR3_uc021uyq.1_Missense_Mutation_p.S236F	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	236					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ATGATTAAATCCAGCCGTCCC	0.458000														12			7		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650771	90650771	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:90650771C>T	uc001xye.1	+	1	1093	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	217						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGTACACCCCCATTGAAG	0.562000														106			53		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109365066	109365066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:109365066C>T	uc010agk.2	+	2	972	c.350C>T	c.(349-351)tCc>tTc	p.S117F	MYO16_uc001vqt.1_Missense_Mutation_p.S95F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	95					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament 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)			TCGGGAGGGTCCCTGCTCCAT	0.562000														53			55		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59002291	59002291	+	Missense_Mutation	SNP	A	C	C	rs138701208		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:59002291A>C	uc001cyy.3	-	2	711	c.623T>G	c.(622-624)gTg>gGg	p.V208G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.V208G|OMA1_uc009vzz.3_Missense_Mutation_p.V208G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	208					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AAAATAAAACACCACAAAGAG	0.368000														26			21		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743881	40743881	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:40743881C>T	uc002xkg.3	-	21	3241	c.3057G>A	c.(3055-3057)gaG>gaA	p.E1019E	PTPRT_uc010ggj.3_Silent_p.E1038E|PTPRT_uc010ggi.3_Silent_p.E222E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1019	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCCAGGGGCTCTGTTTCAA	0.527000														63			59		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29028999	29028999	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:29028999G>A	uc001bra.3	+	6	820	c.678G>A	c.(676-678)ggG>ggA	p.G226G	GMEB1_uc001bqz.3_Silent_p.G216G|GMEB1_uc001brb.3_Silent_p.G216G	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGCAGGGCTGGAATGGA	0.468000														46			47		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870933	189870933	+	Splice_Site	SNP	G	A	A	rs121912916		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:189870933G>A	uc002uqj.1	+	42	3157	c.3040_splice	c.e42-1	p.G1014_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1014	Triple-helical region.		G -> E (in EDS4).		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)	TTTAATCAGGGAAACCCTGGA	0.388000														26			44		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255514	140255514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140255514C>T	uc003lic.2	+	0	584	c.457C>T	c.(457-459)Cct>Tct	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P153S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	168	Cadherin 2.				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)			CTCTCATTTTCCTCTAGAGGG	0.438000														34			23		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972145	85972145	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:85972145G>A	uc001kcv.3	+	14	1869	c.1764G>A	c.(1762-1764)ggG>ggA	p.G588G	CDHR1_uc001kcw.3_Silent_p.G588G|CDHR1_uc009xst.3_Silent_p.G292G|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	588	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGGTGCTAGGGACCCCAGTGA	0.498000														37			29		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213797	9213797	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9213797C>T	uc010xkk.2	-	0	186	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TGAGCAGGTTCCCCAGGATGG	0.493000														74			62		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54451968	54451968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:54451968C>T	uc002iun.1	+	6	847	c.812C>T	c.(811-813)cCt>cTt	p.P271L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	271	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCAGGAGCCCCTGAGATGCCA	0.463000														86			149		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538706	113538706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:113538706G>A	uc003iau.3	-	5	2703	c.2492C>T	c.(2491-2493)tCg>tTg	p.S831L	C4orf21_uc003iaw.3_Missense_Mutation_p.S831L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	831										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACATAGCGACTTTAAAAT	0.368000														16			18		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542671	126542671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:126542671C>T	uc003vlr.2	-	4	1392	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E361K|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.E82K	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	361					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)	TCCCAGAATTCTGCAAACCAC	0.373000										HNSCC(24;0.065)				45			53		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674845	25674845	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:25674845C>T	uc003grr.3	+	9	1266	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	SLC34A2_uc003grs.3_Silent_p.V394V|SLC34A2_uc010iev.3_Silent_p.V394V	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	395					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGGGGCAGGTCGCCACTGTCA	0.537000			T	ROS1	NSCLC									39			35		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299606	129299606	+	Nonsense_Mutation	SNP	G	A	A	rs78139023	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:129299606G>A	uc001uhu.2	-	1	609	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SLC15A4_uc001uhv.2_Non-coding_Transcript|AK001057_uc001uhw.3_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	186					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCCGGACCTCGATCTTTAACC	0.398000														67			60		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879969	33879969	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:33879969G>A	uc021wck.1	-	0	257	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	47										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCGGCCGCCAGCCGAGCCGCC	0.726000														16			7		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117149095	117149095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:117149095G>A	uc003vjd.3	+	2	304	c.172G>A	c.(172-174)Gat>Aat	p.D58N	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	58					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.W57C(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGAGAATGGGATAGAGAGCT	0.338000									Cystic Fibrosis					90			30		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606790	55606790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55606790C>T	uc010rio.2	+	0	563	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCTGATATCACTCTCTTAC	0.408000														28			43		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363891	79363891	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:79363891G>A	uc002soa.1	-	3		c.423C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TGATAATCAGGAGGTAGAAGA	0.438000														7			3		0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9537777	9537777	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:9537777C>T	uc001mhr.3	+	13	1673	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A	ZNF143_uc009yfu.3_Silent_p.A517A|ZNF143_uc010rby.2_Silent_p.A487A	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	518					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACATGCAGGCCATTGGCAACA	0.478000														70			49		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:97136260C>T	uc021rcc.1	+	18	2468	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	797										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCCTATTTCCCTAAATGCC	0.368000														11			5		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241835228	241835228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:241835228G>A	uc002wae.4	-	0	346	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	63										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TCCAGGCCACGGGAGTAGTCC	0.662000														38			24		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266801	48266801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:48266801C>T	uc001ngs.1	+	0	146	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	49					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						AGCCTTGGTTCCCCCATGTAC	0.488000														60			42		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464476	25464476	+	Silent	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:25464476C>G	uc002rgc.3	-	16	2294	c.2037G>C	c.(2035-2037)ggG>ggC	p.G679G	DNMT3A_uc002rgd.3_Silent_p.G679G|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Silent_p.G490G	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	679					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.Q678*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGATCTTCCCCTGGTGCC	0.622000			"""Mis, F, N, S"""		AML									35			68		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299751	158299751	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:158299751G>A	uc001frx.3	-	2	606	c.498C>T	c.(496-498)atC>atT	p.I166I	CD1B_uc001frw.3_Silent_p.I166I	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	166					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GATATTGTATGATTAGTGCAC	0.483000														56			81		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140057493	140057493	+	Splice_Site	SNP	C	T	T	rs145174616	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140057493C>T	uc003lgv.3	-	6	712	c.630_splice	c.e6+1	p.K210_splice	HARS_uc003lgu.3_Splice_Site_p.K141_splice|HARS_uc011czm.2_Splice_Site_p.K170_splice|HARS_uc003lgw.3_Splice_Site_p.K190_splice|HARS_uc011czn.2_Splice_Site_p.K150_splice|HARS_uc011czo.2_Splice_Site_p.K136_splice|HARS_uc011czp.2_Splice_Site_p.K96_splice|HARS_uc011czq.2_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	210					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCTCTGACCTTGACCAGGA	0.517000														37			15		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884677	24884677	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:24884677G>A	uc001isb.2	-	18	4168	c.3681C>T	c.(3679-3681)ttC>ttT	p.F1227F	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1226	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGAGTTTTCTGAAGAAGGATT	0.358000														25			29		0	0	1	0	0
LHPP	64077	broad.mit.edu	37	10	126177016	126177016	+	Silent	SNP	C	T	T	rs147556885	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:126177016C>T	uc001lhs.2	+	2	430	c.339C>T	c.(337-339)atC>atT	p.I113I	LHPP_uc001lht.2_Silent_p.I113I|LHPP_uc009yai.2_Silent_p.I113I	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.	113					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TTGATCAGATCGACACATCCA	0.512000														55			97		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853448	12853448	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:12853448C>T	uc001auj.2	+	1	175	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	24								p.S24P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCTTGTCCATCTCTGCCA	0.572000														36			70		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261908	125261908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:125261908C>T	uc010flu.3	+	7	1466	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CNTNAP5_uc002tno.3_Missense_Mutation_p.P367S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	367	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P367Q(1)|p.P367P(1)|p.P367H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGATTGTGCCCATCACATT	0.458000														51			39		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8391429	8391429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:8391429C>T	uc010idk.3	-	11	1478	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	ACOX3_uc003glc.4_Missense_Mutation_p.D445N|ACOX3_uc003gld.4_Missense_Mutation_p.D445N	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	445					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAGTTGGGATCGTTGTCATCT	0.493000														93			73		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527898	155527898	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155527898T>C	uc003ioj.3	-	7	1229	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	FGG_uc003iog.3_Missense_Mutation_p.N363S	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	363	Fibrinogen C-terminal.		N -> K (in Bern-1; impaired polymerization).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGACACTTGTTCATCCACCA	0.388000														103			69		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770939	35770939	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:35770939T>C	uc011axy.2	+	12	1480	c.1268T>C	c.(1267-1269)gTt>gCt	p.V423A	ARPP21_uc003cga.3_Missense_Mutation_p.V403A|ARPP21_uc003cgb.3_Missense_Mutation_p.V457A|ARPP21_uc003cgf.3_Missense_Mutation_p.V258A|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	457	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGGGCCAGGTTGCTCCCAGC	0.567000														57			42		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	T	T	rs147876778	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87645092C>T	uc003ydx.3	-	10	1256	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	CNGB3_uc010maj.3_Missense_Mutation_p.R265Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	403			R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding	p.R403P(2)|p.R403L(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328000														95			19		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648259	41648259	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:41648259G>A	uc003gvz.4	+	15	2790	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	LIMCH1_uc003gwe.4_Silent_p.R406R|LIMCH1_uc003gvu.4_Silent_p.R406R|LIMCH1_uc003gvv.4_Silent_p.R406R|LIMCH1_uc003gvw.4_Silent_p.R406R|LIMCH1_uc003gvx.4_Silent_p.R394R|LIMCH1_uc003gvy.4_Silent_p.R235R|LIMCH1_uc003gwa.4_Silent_p.R247R|LIMCH1_uc011byu.2_Silent_p.R240R|LIMCH1_uc003gwc.4_Silent_p.R252R|LIMCH1_uc003gwd.4_Silent_p.R240R|LIMCH1_uc011byv.2_Silent_p.R157R	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	406	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTGAACGAAGGAAAAGCATCA	0.343000														21			19		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919676	125919676	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:125919676A>G	uc003ktx.3	-	3	533	c.341T>C	c.(340-342)gTa>gCa	p.V114A	ALDH7A1_uc011cxa.2_Missense_Mutation_p.V141A	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	114					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	AATCTGTCTTACTATTTCTCC	0.358000														50			38		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57398298	57398298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:57398298G>A	uc003pdx.3	+	9	1088	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	334					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTATCAAAGGAAAGATGGAT	0.343000														123			18		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70721905	70721905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:70721905G>A	uc002ezm.3	-	18	2533	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	VAC14_uc010cfw.3_Nonsense_Mutation_p.Q525*|VAC14_uc002ezn.3_Nonsense_Mutation_p.Q324*|MTSS1L_uc002ezj.3_5'Flank|VAC14_uc002ezl.3_Nonsense_Mutation_p.Q191*|VAC14_uc002ezo.1_Non-coding_Transcript	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	759					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.Q759K(2)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCTTGTTCTGGACCTTCTCA	0.632000														35			32		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095681	145095681	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:145095681A>C	uc011lkw.2	+	2	1081	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	SPATC1_uc011lkx.2_Missense_Mutation_p.T327P	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	327										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			cacctcccccaccacctcccc	0.667000														29			3		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883418	64883418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:64883418G>A	uc001ocv.3	+	7	1810	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M	TM7SF2_uc001oct.3_Missense_Mutation_p.V384M|TM7SF2_uc010rny.2_Missense_Mutation_p.V268M|TM7SF2_uc001ocu.3_Missense_Mutation_p.V357M|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	384					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCGCTGCTGGTGCACCGTGA	0.647000														36			41		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139788237	139788237	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139788237C>T	uc003yvd.3	-	15	2222	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	592	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCTCGTTCTCCTTG	0.493000										HNSCC(7;0.00092)				132			41		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:111317000C>T	uc003dxw.3	+	6	1059	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	CD96_uc003dxv.3_Missense_Mutation_p.P281S|CD96_uc003dxx.3_Missense_Mutation_p.P281S|CD96_uc010hpy.1_Missense_Mutation_p.P281S|ZBED2_uc003dxy.3_5'Flank	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323000									Opitz Trigonocephaly syndrome					84			68		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751701	73751701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:73751701C>T	uc011dyh.2	+	2	879	c.532C>T	c.(532-534)Cga>Tga	p.R178*	KCNQ5_uc003pgj.4_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyi.2_Nonsense_Mutation_p.R178*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.R178*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyj.2_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCATCATTCGAATCTGGTC	0.423000														6			134		0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15268625	15268625	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:15268625G>A	uc004cwl.3	-	4	792	c.495C>T	c.(493-495)agC>agT	p.S165S	ASB9_uc004cwm.3_Silent_p.S155S|ASB9_uc004cwk.3_Silent_p.S165S|ASB9_uc010ner.3_Silent_p.S165S|ASB9_uc004cwn.2_Silent_p.S136S	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	165					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGCCCAGGTGGCTGATCTTAT	0.458000														3			49		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:150868507G>A	uc022cgt.1	+	2	96	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_uc004few.2_Missense_Mutation_p.R16Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000														2			37		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61488334	61488334	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:61488334C>T	uc001nsa.3	+	2	395	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	93					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCGTGACTCCATGCAGTACG	0.617000														72			50		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910901	230910901	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:230910901C>T	uc002vqd.2	-	3	1400	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.R314Q|SLC16A14_uc002vqf.3_Missense_Mutation_p.R314Q	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	314						integral to membrane|plasma membrane	symporter activity	p.R314*(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TACAAACATTCGATTTGTAAA	0.453000														14			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538233	82538233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:82538233C>T	uc003uhx.2	-	7	13686	c.13397G>A	c.(13396-13398)aGa>aAa	p.R4466K	PCLO_uc003uhv.2_Missense_Mutation_p.R4466K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4397	PDZ.				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						GTGGACCAATCTTTCCGGCAG	0.413000														43			93		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876655	57876655	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:57876655G>A	uc002yap.3	+	1	612	c.243G>A	c.(241-243)caG>caA	p.Q81Q	EDN3_uc002yao.1_Silent_p.Q81Q|EDN3_uc002yaq.3_Silent_p.Q81Q|EDN3_uc002yar.3_Silent_p.Q81Q|EDN3_uc002yas.3_Silent_p.Q81Q	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	81					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCCCTGGGCAGGAGCAGGCGG	0.667000														42			36		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174711	51174712	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:51174711_51174712CT>TC	uc021tif.1	-	1	1452_1453	c.1130_1131AG>GA	c.(1129-1131)gag>gGA	p.E377G	SALL1_uc021tid.1_Missense_Mutation_p.E377G|SALL1_uc021tie.1_Missense_Mutation_p.E474G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	474					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAATGGCCTCTCTCCGGTATG	0.510000														111			56		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117598	11117598	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:11117598G>A	uc003jfa.1	-	12	2386	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CTNND2_uc010itt.2_Silent_p.I656I|CTNND2_uc011cmy.1_Silent_p.I410I|CTNND2_uc011cmz.1_Silent_p.I314I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I314I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	747					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						GCGCAGACTGGATCACGTACA	0.507000														108			93		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535387	50535387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:50535387C>T	uc001zxz.3	-	10	1537	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	HDC_uc001zxy.3_Missense_Mutation_p.E142K|HDC_uc010uff.2_Missense_Mutation_p.E366K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	399					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCAGGAATTTCAAAGGAAGGG	0.433000														18			23		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325794	79325794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79325794G>A	uc010mpk.3	-	7	1520	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F	PRUNE2_uc022bih.1_Missense_Mutation_p.L288F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	466					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGGAGTCAAGCCCTGGGAGA	0.592000														25			49		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837394	12837394	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:12837394C>T	uc001aui.3	+	2	1131	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCGCCATCCTGCCTGCCC	0.632000														83			49		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022318	61022318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61022318C>T	uc010qif.1	-	9	1244	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	FAM13C_uc010qid.2_Missense_Mutation_p.R288K|FAM13C_uc001jkn.3_Missense_Mutation_p.R371K|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.R288K|FAM13C_uc001jkp.3_Missense_Mutation_p.R288K	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	371										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCATTTTCTCTGGGGACTGT	0.522000														30			25		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38409183	38409183	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38409183C>T	uc003jlc.2	+	9	1672	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	EGFLAM_uc003jlb.2_Silent_p.I442I|EGFLAM_uc003jle.2_Silent_p.I208I|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	442	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.I442I(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCTGGCTATCATCCGACGCT	0.448000														6			6		0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875522	62875522	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:62875522G>A	uc004dvl.2	-	7	1991	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ARHGEF9_uc011mos.1_Silent_p.F363F|ARHGEF9_uc004dvk.1_Silent_p.F202F|ARHGEF9_uc004dvm.1_Silent_p.F363F|ARHGEF9_uc004dvj.2_Silent_p.F282F|ARHGEF9_uc011mot.2_Silent_p.F331F|ARHGEF9_uc004dvn.3_Silent_p.F391F	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	384	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGCTGACATTGAAGTCATCAT	0.438000														1			70		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447722	63447722	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:63447722G>A	uc001xfx.3	-	5	861	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KCNH5_uc001xfy.3_Silent_p.F270F|KCNH5_uc001xfz.1_Silent_p.F212F|KCNH5_uc001xga.3_Silent_p.F212F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	270					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)		CGGGCCCCACGAAAGTCGTGT	0.433000														14			22		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344201	72344201	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:72344201G>A	uc002llw.2	+	0	1279	c.1226G>A	c.(1225-1227)aGt>aAt	p.S409N	ZNF407_uc010xfc.2_Missense_Mutation_p.S409N|ZNF407_uc010dqu.2_Missense_Mutation_p.S409N|ZNF407_uc002llu.2_Missense_Mutation_p.S408N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	409					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)		CACGGTAACAGTGTAACCTCG	0.458000														11			16		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288862	125288862	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125288862G>A	uc004bmn.1	-	0	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AACTGCAGGTGGAAAAGGCCT	0.537000														74			28		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037297	57037297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57037297C>T	uc002qnh.3	+	4	1994	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAAGTCATACTGGAGA	0.418000														38			29		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802956	137802956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:137802956C>T	uc003ldb.1	+	1	1088	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	273					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACCAGAAGCCCTTCCAGGGC	0.632000														50			18		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502024	91502024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:91502024C>T	uc001tbm.3	-	1	1122	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	245					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CCAGGTATTCCACTATCAGCC	0.383000														64			56		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31384573	31384573	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:31384573G>A	uc002ebt.3	+	19	2437	c.2370G>A	c.(2368-2370)ttG>ttA	p.L790L	ITGAX_uc002ebu.1_Silent_p.L790L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	790					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						TACCCAGCTTGAAGTCCCTGC	0.527000														81			48		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170614	104170614	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:104170614T>C	uc004bbh.1	+	2	840	c.564T>C	c.(562-564)agT>agC	p.S188S	ZNF189_uc004bbg.1_Silent_p.S146S|ZNF189_uc004bbi.1_Silent_p.S174S|ZNF189_uc011lvk.1_Silent_p.S173S|ZNF189_uc022ble.1_Silent_p.S93S	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	188					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTAGTCGCAGTTCATTTGTTA	0.413000														55			94		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129240	76129240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:76129240C>T	uc003keo.3	+	1	983	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	270			R -> Q (in dbSNP:rs2243062).		blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R270Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGAATGCTGCGATCTTCTGC	0.493000														55			50		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				124			215		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085261	167085261	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:167085261C>T	uc010fpl.3	-	21	4454	c.4113G>A	c.(4111-4113)tgG>tgA	p.W1371*	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1382						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAGGTTTTTCCATCGCACAT	0.393000														211			88		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66551833	66551833	+	Silent	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:66551833T>G	uc002jho.3	-	1	744	c.456A>C	c.(454-456)ccA>ccC	p.P152P	FAM20A_uc010wqp.2_Silent_p.P14P|FAM20A_uc002jhn.3_5'UTR	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	152						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGAGCTGCAGTGGGGGGTCCA	0.547000														98			52		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36975988	36975988	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:36975988A>G	uc003jkl.4	+	8	1478	c.979A>G	c.(979-981)Aag>Gag	p.K327E	NIPBL_uc003jkk.4_Missense_Mutation_p.K327E|NIPBL_uc003jkm.1_Missense_Mutation_p.K206E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	327					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAGAAGCAGAAGAAAATGAA	0.373000														18			29		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236830	31236830	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:31236830C>T	uc001rjt.1	+	2	479	c.228C>T	c.(226-228)ctC>ctT	p.L76L	DDX11_uc010sjw.1_Silent_p.L76L|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.L76L|DDX11_uc001rjs.1_Silent_p.L76L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.L76L|DDX11_uc001rjw.1_Silent_p.L50L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	76	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGCACGACTCCTTGAAACTG	0.527000										Multiple Myeloma(12;0.14)				46			35		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868702	129868702	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:129868702G>A	uc009yat.3	+	14	1731	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	PTPRE_uc001lkb.3_Silent_p.E427E|PTPRE_uc009yau.2_Silent_p.E427E|PTPRE_uc001lkd.3_Silent_p.E369E|PTPRE_uc010quq.1_Silent_p.E328E	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	427	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R437W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGGGCTGGAGGAGGAGTTCA	0.572000														77			26		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324378	7324378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:7324378G>A	uc001mfe.3	+	1	491	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	85						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGCGAGAACGAGGCCTGCCC	0.547000														60			61		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102789	168102789	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:168102789G>A	uc002udx.3	+	8	4976	c.4887G>A	c.(4885-4887)gaG>gaA	p.E1629E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E1454E|XIRP2_uc010fpq.3_Silent_p.E1407E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1454					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						GTGAAGAAGAGAAGGGAAATG	0.328000														20			32		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044201	35044201	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:35044201G>A	uc003zvw.3	+	1	1604	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	C9orf131_uc003zvu.3_Missense_Mutation_p.M477I|C9orf131_uc003zvv.3_Missense_Mutation_p.M452I|C9orf131_uc003zvx.3_Missense_Mutation_p.M490I	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	525										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCACCCTTATGGAACCACACA	0.507000														149			137		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175184	57175184	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57175184C>T	uc010ygn.2	-	1	1610	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCTGGATCAGGTAGGAGC	0.682000														80			74		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478346	14478346	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:14478346G>A	uc010xai.2	-	2		c.1218C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ATGTTGGAAGGAGACATGGAT	0.498000														12			10		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85894227	85894227	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:85894227A>G	uc002sqj.3	-	4	403	c.303_splice	c.e4+1	p.Q101_splice	SFTPB_uc002sqi.3_Splice_Site_p.Q101_splice|SFTPB_uc002sqh.3_Splice_Site_p.Q101_splice	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	89	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGGCATCATTACCTGGAAAAT	0.572000														25			26		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143197	56143197	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56143197C>T	uc001nit.2	+	0	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTATTCTTATCCATCTACCTC	0.453000														77			67		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148827821	148827821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:148827821C>T	uc003ilf.3	+	10	1067	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ARHGAP10_uc003ilg.3_Missense_Mutation_p.S5F	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	356	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGGCATTTTCCGAAGAGGAA	0.428000														81			53		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531002	42531002	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:42531002C>T	uc010dni.3	+	3	1993	c.1697C>T	c.(1696-1698)cCa>cTa	p.P566L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	566						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCATCACCCCATCCAGCCCT	0.522000									Schinzel-Giedion syndrome					124			98		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781949	107781949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:107781949G>A	uc003ymm.4	-	0	524	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	157					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCCGCGTTGGGGAGCCGTG	0.582000														257			199		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870952	207870952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:207870952G>A	uc001hga.4	+	5	1088	c.967G>A	c.(967-969)Gac>Aac	p.D323N	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	323	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCGGCTACGACCTCAGAGG	0.557000														272			114		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457137	20457137	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:20457137C>T	uc002zsd.4	-	0	4650	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCCCACAGATCCAAGCACAGT	0.597000														97			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640118	179640118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179640118C>T	uc021vsy.1	-	27	6698	c.6473G>A	c.(6472-6474)gGa>gAa	p.G2158E	TTN_uc021vsz.1_Missense_Mutation_p.G2112E|TTN_uc021vta.1_Missense_Mutation_p.G2112E|TTN_uc021vtb.1_Missense_Mutation_p.G2112E|TTN_uc002unb.2_Missense_Mutation_p.G2158E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2158	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G2158V(3)|p.G2112V(3)		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)			GGAGGTTTCTCCAGCTATGTT	0.428000														50			68		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974024	22974024	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:22974024C>T	uc001bgc.4	+	2	589	c.486C>T	c.(484-486)gtC>gtT	p.V162V	C1QC_uc001bga.4_Silent_p.V162V	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	162	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	CCTGCAAAGTCCCCGGCCTCT	0.587000														39			44		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250221	52250221	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:52250221C>T	uc021uyn.1	-	2	173	c.27G>A	c.(25-27)acG>acA	p.T9T	FPR1_uc002pxq.3_Silent_p.T9T|FPR1_uc021uyo.1_Silent_p.T9T	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	9					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGAGATGTTCGTGGGGAGAG	0.507000														18			11		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687542	109687542	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:109687542A>G	uc004bcz.3	+	2	1638	c.1349A>G	c.(1348-1350)cAt>cGt	p.H450R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H298R|ZNF462_uc004bda.3_Missense_Mutation_p.H298R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	450					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCACCATGCATCGACGTAGC	0.443000														66			120		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183848072	183848072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:183848072G>A	uc002upc.3	-	10	1445	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	NCKAP1_uc002upb.3_Missense_Mutation_p.S354F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	348					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTCAGTGCAGATCTTAAAAA	0.343000														96			39		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528158	7528158	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7528158G>A	uc010sge.2	-	10	2776	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	CD163L1_uc001qsy.3_Missense_Mutation_p.S907F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	907	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.N916N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCACACTGGGATTTGCCATT	0.527000														24			24		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963553	39963553	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:39963553C>T	uc002olo.4	+	21	2318	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	SUPT5H_uc002olp.4_Silent_p.S713S|SUPT5H_uc002olq.4_Silent_p.S709S|SUPT5H_uc002oln.4_Silent_p.S713S|SUPT5H_uc002olr.4_Silent_p.S713S|SUPT5H_uc002ols.1_Silent_p.S336S|SUPT5H_uc010egp.1_Silent_p.S79S	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	713	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCGCATCTCCCAGGGGCCCT	0.692000														40			24		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471869	131471869	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:131471869C>T	uc010tbm.2	+	6	1375	c.816C>T	c.(814-816)atC>atT	p.I272I	GPR133_uc001uit.4_Silent_p.I240I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	240					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGATGAGATCGCCATGTACT	0.567000														57			36		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481738	140481738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140481738C>T	uc003lio.3	+	0	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	502	Cadherin 5.				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)			CCCCTCTCTTCCCTGGTCTCC	0.657000														100			85		0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34247233	34247233	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:34247233G>A	uc002hkh.3	-	5	760	c.711C>T	c.(709-711)atC>atT	p.I237I	RDM1_uc010cty.3_Non-coding_Transcript|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Silent_p.I214I|RDM1_uc002hkg.4_Silent_p.I181I|RDM1_uc010cub.3_Non-coding_Transcript|RDM1_uc010cuf.3_Non-coding_Transcript|RDM1_uc010cue.3_Non-coding_Transcript|RDM1_uc010cug.3_Non-coding_Transcript|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Silent_p.I204I	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	237					DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGACACCTACGATGTCTTCAC	0.368000								Other identified genes with known or suspected DNA repair function						55			51		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420622	55420622	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55420622G>A	uc001sgp.4	+	1	777	c.399G>A	c.(397-399)agG>agA	p.R133R	NEUROD4_uc021qyr.1_Silent_p.R133R	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	133	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A132T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GACTGGCCAGGAACTATATTT	0.493000														36			27		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348764	150348764	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:150348764C>T	uc010ntg.2	+	1	847	c.709C>T	c.(709-711)Cta>Tta	p.L237L	GPR50_uc011myc.2_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	237					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.L237L(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCAATTTTCTAACCATGTT	0.542000														3			54		0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92662996	92662996	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:92662996C>T	uc001khd.2	+	12	1216	c.946C>T	c.(946-948)Cat>Tat	p.H316Y		NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	0					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						tcagagagatcatactcccaa	0.353000														24			14		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920218	86920218	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:86920218C>T	uc010mpz.3	-	3	431	c.285G>A	c.(283-285)agG>agA	p.R95R	SLC28A3_uc011lsy.2_Silent_p.R26R|SLC28A3_uc004anu.2_Silent_p.R95R|SLC28A3_uc010mqb.3_Silent_p.R26R	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	95					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTGTGTTTCCTACAGAAAC	0.358000														58			88		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263371	248263371	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248263371G>A	uc001ids.3	+	2	1031	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	OR2L13_uc021pmc.1_Missense_Mutation_p.G232R	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G232E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCAAAGGAGGGGAGAAAAAA	0.433000														61			29		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122078450	122078450	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122078450G>A	uc022akp.1	-	15	2831	c.2409C>T	c.(2407-2409)ctC>ctT	p.L803L	CADPS2_uc003vkg.4_Silent_p.L504L|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.L804L|CADPS2_uc022akr.1_Silent_p.L807L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	807	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453000														49			27		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762143	101762143	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:101762143C>T	uc001pgl.3	-	8	1630	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	345	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTGATGAATGCCATTTAGATT	0.448000														113			85		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484264	36484264	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:36484264C>T	uc002hpz.3	-	10	5209	c.5188G>A	c.(5188-5190)Gat>Aat	p.D1730N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1730						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGCCTGTATCATTTGGAGAT	0.562000														34			34		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182869175	182869175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:182869175C>T	uc001gpu.3	-	9	2190	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	SHCBP1L_uc001gpv.3_Missense_Mutation_p.M516I|SHCBP1L_uc010pnz.2_Missense_Mutation_p.M493I|SHCBP1L_uc001gpw.3_Missense_Mutation_p.M355I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	707										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TATTATTATTCATTTCCAGAT	0.318000														31			16		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623992	92623992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92623992C>T	uc001pdj.4	+	24	13404	c.13387C>T	c.(13387-13389)Cct>Tct	p.P4463S	FAT3_uc001pdi.4_Missense_Mutation_p.P935S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4495	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTATCTCCCTCCTCACCC	0.587000										TCGA Ovarian(4;0.039)				40			25		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122082298	122082298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:122082298C>T	uc021xrj.1	-	4	450	c.371G>A	c.(370-372)aGa>aAa	p.R124K	TNIP3_uc010ing.3_Missense_Mutation_p.R47K|TNIP3_uc011cgj.2_Missense_Mutation_p.R117K|TNIP3_uc010ini.3_Missense_Mutation_p.R47K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	47								p.R47K(1)|p.E123K(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TACCTCTTTTCTTTGTTTTTC	0.313000														3			4		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129851287	129851287	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:129851287G>A	uc004bqr.1	-	4	1913	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Silent_p.F169F	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	471	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCCTCCTCGGAACTCAGCCC	0.602000														220			75		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228786135	228786135	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228786135G>A	uc002vpn.1	+	11	1150	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	WDR69_uc010zlw.1_Silent_p.G342G|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	357								p.G357G(2)		breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACCCTCAAGGGAACCATCTTC	0.413000														80			29		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187609	37187609	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37187609C>T	uc002hrd.1	+	0		c.1451C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AACTTAGCCTCCTAAGGAAGT	0.512000														44			23		0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23574053	23574054	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:23574053_23574054CC>TT	uc003ccg.2	+	4	549_550	c.369_370CC>TT	c.(367-372)ttccga>ttTTga	p.R124*	UBE2E2_uc010hfc.2_Non-coding_Transcript|MIR548AC_uc021wtz.1_Intron	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	124					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						AGGTTACCTTCCGAACAAGAAT	0.312000														29			16		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518166	30518166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30518166G>A	uc003agy.3	+	9	847	c.782G>A	c.(781-783)gGt>gAt	p.G261D		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	261					meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GCCCATCAGGGTCTAGACTGT	0.388000														14			17		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:24922597C>T	uc001ywo.3	+	0	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	528	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCCTCTTTCCTTCCTGACT	0.532000														17			104		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796371	78796371	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:78796371G>A	uc004akc.2	+	15	2599	c.2061G>A	c.(2059-2061)agG>agA	p.R687R	PCSK5_uc004ajz.3_Silent_p.R687R|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'UTR	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	687	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCGCTGCAGGAAGTGTGCCC	0.517000														71			37		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168319418	168319418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:168319418C>T	uc021zik.1	+	19	2888	c.2569C>T	c.(2569-2571)Ctt>Ttt	p.L857F	MLLT4_uc003qwb.1_Missense_Mutation_p.L882F|MLLT4_uc003qwc.2_Missense_Mutation_p.L898F|MLLT4_uc021zij.1_Missense_Mutation_p.L882F|MLLT4_uc021zim.1_Missense_Mutation_p.L444F|MLLT4_uc003qwg.1_Missense_Mutation_p.L207F	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	898	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.L857L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAAACAGGATCTTATAGAAAA	0.478000			T	MLL	AL									6			18		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542649	2542649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:2542649G>A	uc002wgf.1	+	3	562	c.547G>A	c.(547-549)Gag>Aag	p.E183K	TMC2_uc002wgg.1_Missense_Mutation_p.E167K|TMC2_uc010zpw.1_Missense_Mutation_p.E14K|TMC2_uc010zpx.1_Missense_Mutation_p.E14K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	183	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGCTGACAGAGCTCAGGTG	0.602000														12			14		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55817708	55817708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55817708C>T	uc002qkf.3	+	18	2154	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	BRSK1_uc002qkg.3_Missense_Mutation_p.P660L|BRSK1_uc002qkh.3_Missense_Mutation_p.P355L|Mir_324_uc021vbu.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	660					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TTCCAAAAGCCCGTCCGCTTC	0.637000														53			35		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77245241	77245241	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:77245241C>T	uc004aji.3	+	1	133	c.84C>T	c.(82-84)tcC>tcT	p.S28S	RORB_uc004ajh.3_Silent_p.S17S	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	28					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						GCGATAAGTCCTCTGGGATCC	0.438000														49			88		0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	681438	681438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:681438C>T	uc002lpk.1	+	3	646	c.611C>T	c.(610-612)tCc>tTc	p.S204F	FSTL3_uc010drt.1_Non-coding_Transcript	NM_005860	NP_005851	O95633	FSTL3_HUMAN	Homo sapiens follistatin-like 3 (secreted glycoprotein) (FSTL3), mRNA.	204	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTGTGCCCTCCAGCCCCGGC	0.692000			T	CCND1	B-CLL									16			9		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26343750	26343750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26343750G>A	uc003abz.1	+	35	5954	c.5704G>A	c.(5704-5706)Gac>Aac	p.D1902N	MYO18B_uc003aca.1_Missense_Mutation_p.D1783N|MYO18B_uc010guy.1_Missense_Mutation_p.D1784N|MYO18B_uc010guz.1_Missense_Mutation_p.D1782N|MYO18B_uc011aka.1_Missense_Mutation_p.D1056N|MYO18B_uc011akb.1_Missense_Mutation_p.D1415N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1902	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGATGACCTGAATGA	0.562000														38			34		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709789	26709789	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26709789G>A	uc003acb.3	+	8	2132	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	SEZ6L_uc003acd.3_Missense_Mutation_p.E646K|SEZ6L_uc011akd.2_Missense_Mutation_p.E646K|SEZ6L_uc003ace.3_Missense_Mutation_p.E646K|SEZ6L_uc011akc.2_Missense_Mutation_p.E646K|SEZ6L_uc003acc.3_Missense_Mutation_p.E646K|SEZ6L_uc003acf.1_Missense_Mutation_p.E419K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E419K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	646	CUB 3.					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						AAACTGGCCCGAGCCCTACGT	0.493000														89			54		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988617	21988617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21988617C>T	uc002zve.3	+	2	472	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CCDC116_uc011aih.1_Missense_Mutation_p.R127W	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	127										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGCACATGCCCGGCCCAGCCT	0.657000														55			62		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74618229	74618229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:74618229G>A	uc009yub.3	-	8	1054	c.722C>T	c.(721-723)tCc>tTc	p.S241F	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_5'Flank|XRRA1_uc001ovo.3_5'UTR|XRRA1_uc001ovp.4_Missense_Mutation_p.S8F|XRRA1_uc001ovq.4_Missense_Mutation_p.S241F|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.S8F	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	241					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACTGGGGTTGGAGAGTCTGTT	0.557000														102			77		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196434428	196434428	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196434428G>A	uc001gtd.1	-	7	693	c.633C>T	c.(631-633)ttC>ttT	p.F211F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.F211F|KCNT2_uc001gtf.1_Silent_p.F211F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.F211F|KCNT2_uc009wyv.1_Silent_p.F186F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	211						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						CTTACCAGGTGAAGATAAGGC	0.269000														49			57		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839514	13839514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13839514C>T	uc003jfd.2	-	34	5875	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1945	AAA 1 (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)					CCTAAAAATTCATTCTGGTAT	0.428000									Kartagener syndrome					66			43		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474558	111474558	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:111474558G>A	uc003iab.4	+	17	2931	c.2589G>A	c.(2587-2589)ggG>ggA	p.G863G		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	863					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACAGCTATGGGAAGAACATGG	0.393000														117			88		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663377	123663377	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:123663377C>T	uc021xrm.1	+	2	711	c.330C>T	c.(328-330)tcC>tcT	p.S110S	BBS12_uc003ieu.3_Silent_p.S110S|BBS12_uc021xrn.1_Silent_p.S110S	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	110					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCCCCATTTCCATAATAGTAT	0.373000									Bardet-Biedl syndrome					63			40		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275833	38275833	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:38275833C>A	uc022aua.1	-	9	2285	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.R479L|FGFR1_uc011lbv.2_Missense_Mutation_p.R446L|FGFR1_uc011lbw.2_Missense_Mutation_p.R359L|FGFR1_uc003xlp.3_Missense_Mutation_p.R446L|FGFR1_uc022aub.1_Missense_Mutation_p.R446L|FGFR1_uc022auc.1_Missense_Mutation_p.R359L|FGFR1_uc022aud.1_Missense_Mutation_p.R357L|FGFR1_uc010lwk.3_Missense_Mutation_p.R438L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	448					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGAGGAGAGCCGTGATGGCCG	0.577000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							28			22		1.64113e-05	1.64891e-05	1	1	0
GRM5	2915	broad.mit.edu	37	11	88300437	88300437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:88300437G>A	uc001pcq.3	-	6	2614	c.2414C>T	c.(2413-2415)tCg>tTg	p.S805L	GRM5_uc009yvm.3_Missense_Mutation_p.S805L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	805					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGGCTGACCGAGAAACACAT	0.498000														70			55		0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153390600	153390600	+	Silent	SNP	C	T	T	rs147923063		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:153390600C>T	uc001fbt.1	+	1	99	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	14	EF-hand 1.					cytoplasm	calcium ion binding	p.M13I(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGGCATGATCGACATGTTTC	0.428000														161			91		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143792319G>A	uc011kty.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000														146			52		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433458	140433458	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140433458G>A	uc003lik.1	+	0	2480	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	801					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D800E(1)		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)			ATTCTGATAGGAATAAGTCTC	0.438000														42			40		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:28543645G>A	uc003nlo.3	-	2	1455	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	279					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGTACAAGGATAACATCAA	0.378000														168			56		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:28737418C>T	uc002kwn.3	-	2	529	c.267G>A	c.(265-267)agG>agA	p.R89R	DSC1_uc002kwm.3_Silent_p.R89R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000														28			18		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114005253	114005253	+	Missense_Mutation	SNP	G	A	A	rs146277531	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:114005253G>A	uc010tkc.2	-	3	473	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	GRTP1_uc001vtn.3_Missense_Mutation_p.R126W|GRTP1_uc010tkb.2_Missense_Mutation_p.R48W|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	126	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTGGTCTTCCGGAACTTCACG	0.582000														125			124		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909789	36909789	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:36909789G>A	uc001uvn.3	-	2	449	c.179C>T	c.(178-180)tCa>tTa	p.S60L	SPG20_uc010ten.2_Missense_Mutation_p.S60L|SPG20_uc001uvm.3_Missense_Mutation_p.S60L|SPG20_uc001uvo.3_Missense_Mutation_p.S60L|SPG20_uc001uvq.3_Missense_Mutation_p.S60L|SPG20_uc001uvp.2_Missense_Mutation_p.S60L	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	60	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCTTTTGATGAAATGCTGAT	0.428000														66			51		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183676138	183676138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:183676138G>A	uc003ivd.1	+	20	4693	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	ODZ3_uc003ive.1_Missense_Mutation_p.D953N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1540					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTCACTGGTGATTACCTTTA	0.393000														24			15		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601889	38601889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38601889G>A	uc021wvo.1	-	21	4046	c.3994C>T	c.(3994-3996)Ccg>Tcg	p.P1332S	SCN5A_uc021wvk.1_Missense_Mutation_p.P1331S|SCN5A_uc021wvl.1_Missense_Mutation_p.P1278S|SCN5A_uc021wvm.1_Missense_Mutation_p.P1332S|SCN5A_uc021wvn.1_Missense_Mutation_p.P1331S|SCN5A_uc021wvp.1_Missense_Mutation_p.P1332S|SCN5A_uc021wvq.1_Missense_Mutation_p.P1331S|SCN5A_uc021wvr.1_Missense_Mutation_p.P1332S|SCN5A_uc021wvs.1_Missense_Mutation_p.P1332S|SCN5A_uc021wvt.1_Missense_Mutation_p.P1331S|SCN5A_uc021wvu.1_Missense_Mutation_p.P1278S|SCN5A_uc021wvv.1_Missense_Mutation_p.P1332S|SCN5A_uc021wvj.1_Missense_Mutation_p.P1144S|SCN5A_uc021wvi.1_Missense_Mutation_p.P1198S|SCN5A_uc021wvw.1_Missense_Mutation_p.P942S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGATGGACGGGATGGCGCCC	0.577000														46			24		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445466	87445466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:87445466G>A	uc002fjz.1	-	11	2477	c.2450C>T	c.(2449-2451)cCg>cTg	p.P817L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.P593L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	817					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAACACGGACGGACCGGAGAA	0.652000														12			7		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435759	145435759	+	Missense_Mutation	SNP	G	A	A	rs141349885	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:145435759G>A	uc003lnt.3	+	7	1776	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SH3RF2_uc011dbl.1_Missense_Mutation_p.R513Q|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	513							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R513Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAAAGGGCGGAGCAGCATG	0.552000														47			42		0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944212	41944212	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41944212G>A	uc002oqv.3	-	1	211	c.144C>T	c.(142-144)ctC>ctT	p.L48L	ATP5SL_uc010xwa.2_Silent_p.L48L|ATP5SL_uc002oqw.2_Silent_p.L42L|ATP5SL_uc021uuz.1_Non-coding_Transcript|ATP5SL_uc002oqx.2_Silent_p.L42L|ATP5SL_uc002oqy.2_Silent_p.L42L|ATP5SL_uc002oqz.2_Silent_p.L42L|ATP5SL_uc002ora.1_Silent_p.L29L|ATP5SL_uc010xwb.2_Silent_p.L48L	NM_001167867	NP_001161339	Q9NW81	AT5SL_HUMAN	Homo sapiens ATP5S-like (ATP5SL), transcript variant 1, mRNA.	42										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TCAGGAACTGGAGTATTGTCC	0.537000														53			57		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898612	49898612	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:49898612C>T	uc003cxt.1	-	6	755	c.562_splice	c.e6+1	p.A188_splice	CAMKV_uc011bcy.1_Splice_Site_p.A113_splice|CAMKV_uc003cxv.1_Splice_Site_p.G188_splice|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Splice_Site_p.A188_splice|CAMKV_uc011bcz.1_Splice_Site_p.A151_splice|CAMKV_uc011bda.1_Splice_Site_p.A145_splice|CAMKV_uc011bdb.1_Splice_Site	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	188	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCCTGCTTGCCCAGATACTC	0.582000														14			13		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839420	62839420	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62839420G>A	uc002yii.3	+	6	1235	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	291	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaggaggaagaggaaga	0.562000														8			14		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890918	207890918	+	Silent	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:207890918A>T	uc001hga.4	+	10	1645	c.1524A>T	c.(1522-1524)ccA>ccT	p.P508P	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	508	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACCCCCACCCAGACAGAGGGA	0.537000														112			169		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899428	94899428	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:94899428G>A	uc002btj.3	+	7	1133	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	MCTP2_uc010urg.1_Silent_p.G356G|MCTP2_uc002bti.2_Silent_p.G356G|MCTP2_uc010boj.3_Silent_p.G85G|MCTP2_uc010bok.3_Silent_p.G356G|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	356	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G356W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGGAACGGGATTATAAGTA	0.393000														72			48		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586120	7586120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7586120G>A	uc010sge.2	-	2	321	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	CD163L1_uc001qsy.3_Missense_Mutation_p.R99C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTCCAAAACGAAACATGGCG	0.478000														49			41		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793076	143793076	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143793076G>A	uc011kty.2	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACAGCCTTAGGAATGCAGAGG	0.463000														342			122		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994750	121994750	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:121994750C>T	uc003eew.4	+	4	1907	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CASR_uc003eev.4_Missense_Mutation_p.S490F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	490					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	p.S490F(2)		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)	GGGAACTATTCCATCATCAAC	0.488000														81			59		0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7628141	7628142	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:7628141_7628142GT>AA	uc003srf.3	+	7	2139_2140	c.1831_1832GT>AA	c.(1831-1833)gtt>AAt	p.V611N	MIOS_uc003srg.3_Missense_Mutation_p.V146N|MIOS_uc010ktq.3_Missense_Mutation_p.L9M	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	611										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAAAACAAAGTTGCAGTACGT	0.327000														34			41		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103347	170103347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:170103347C>T	uc002ues.3	-	20	3271	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	LRP2_uc010zdf.1_Missense_Mutation_p.E883K	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1020					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.N1019H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGGGTGGTTCATTGGTTGGG	0.502000														39			49		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269613	34269613	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:34269613G>A	uc001wru.3	+	11	2164	c.2100G>A	c.(2098-2100)ggG>ggA	p.G700G	NPAS3_uc001wrs.3_Silent_p.G687G|NPAS3_uc001wrv.3_Silent_p.G670G|NPAS3_uc001wrt.3_Silent_p.G668G	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	700	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGGCGGTGGGGGTGGCGGTG	0.741000														20			22		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149762894	149762894	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:149762894G>A	uc001esp.4	+	5	996	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	HIST2H2BF_uc010pbj.2_Intron	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	316	Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATACGTAAAGAACTGAAAAG	0.388000														43			17		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:16067851C>T	uc003jfo.2	-	3	1151	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	MARCH11_uc010itw.1_Missense_Mutation_p.R69Q	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTCACAGCTCGCCAGCGCTT	0.423000														21			12		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242921	113242921	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:113242921A>T	uc001eck.3	+	19	3149	c.2879A>T	c.(2878-2880)aAt>aTt	p.N960I	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.N960I|MOV10_uc001ecm.3_Missense_Mutation_p.N900I	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	960					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGGGACAGAATTTACTGCAA	0.552000														47			41		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410433	159410433	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159410433G>A	uc010piv.2	+	0	922	c.885G>A	c.(883-885)ctG>ctA	p.L295L	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	295					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTCCCCTACTGAACCCTGTGG	0.507000														59			107		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367826	47367826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:47367826C>T	uc021qis.1	-	11	1077	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	341					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCAGTGACGCCGTACTGGAA	0.617000														17			15		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20444378C>T	uc010tkx.2	+	0	701	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453000														49			48		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708353	43708353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:43708353C>T	uc002ovy.3	-	1	217	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSG4_uc002ovz.3_Missense_Mutation_p.E39K|PSG4_uc002owb.3_Missense_Mutation_p.E39K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	39	Ig-like V-type.				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)				GGCTGGGCTTCAATCGTGACT	0.458000														91			87		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85654607	85654607	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:85654607C>T	uc003hpd.3	-	43	7557	c.7149G>A	c.(7147-7149)aaG>aaA	p.K2383K	WDFY3_uc003hpe.1_Silent_p.K11K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2383						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCGCACCATCTTTTTCCTCA	0.512000														122			91		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866542	30866542	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30866542G>A	uc003ahy.3	-	1	171	c.82C>T	c.(82-84)Cct>Tct	p.P28S	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	28						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GGCAGGGCAGGAAGCACATCC	0.552000														52			39		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212831	62212831	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:62212831G>A	uc003xuh.3	+	1	769	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CLVS1_uc003xug.2_Missense_Mutation_p.D149N|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	149	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCCAATTGGGATCAGAGTAG	0.448000														22			19		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488376	6488376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6488376G>A	uc001amy.3	+	1	553	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	129					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCATGGCGGTGGGGACCCCAC	0.637000														58			55		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880634	128880634	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:128880634T>A	uc004eut.1	+	5	711	c.467T>A	c.(466-468)tTt>tAt	p.F156Y	XPNPEP2_uc011mum.2_Missense_Mutation_p.F156Y	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	156					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGTGTGGGTTTTGACCCCTTC	0.498000														7			148		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230383	7230384	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:7230383_7230384CC>TT	uc003mxb.3	+	9	2543_2544	c.2051_2052CC>TT	c.(2050-2052)gcc>gTT	p.A684V	RREB1_uc021yky.1_Missense_Mutation_p.A684V|RREB1_uc003mxc.3_Missense_Mutation_p.A684V|RREB1_uc010jnx.3_Missense_Mutation_p.A684V|RREB1_uc021ykz.1_Missense_Mutation_p.A684V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	684					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCGACAAGGCCGCGCTCATCC	0.634000														52			23		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196756491	196756491	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:196756491A>G	uc002utj.4	-	30	5035	c.4934T>C	c.(4933-4935)tTa>tCa	p.L1645S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1645	AAA 2 (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						CTTAGGATTTAAAACAGTTAT	0.343000														38			30		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135944	40135944	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40135944G>A	uc021qgf.1	-	0	1899	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	LRRC4C_uc001mxc.1_Silent_p.D629D|LRRC4C_uc001mxd.1_Silent_p.D629D|LRRC4C_uc001mxa.1_Silent_p.D633D|LRRC4C_uc001mxb.1_Silent_p.D629D	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	633					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)				CTTGTACATTGTCTTTAGAGT	0.318000														28			20		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699695	169699695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:169699695C>T	uc001ggm.4	-	4	750	c.593G>A	c.(592-594)gGa>gAa	p.G198E	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	198	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTGAAGTTTCCCAGTGGGTG	0.493000														38			82		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201766	71201766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:71201766C>T	uc003hff.3	+	0	1096	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	CABS1_uc021xoz.1_Missense_Mutation_p.S337L	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	337						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAAGAATCATCTACAGAA	0.408000														42			33		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3018759	3018759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:3018759G>A	uc010zqd.2	+	22	2739	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	PTPRA_uc002whj.3_Missense_Mutation_p.D797N|PTPRA_uc002whk.3_Missense_Mutation_p.D788N|PTPRA_uc002whl.3_Missense_Mutation_p.D788N|PTPRA_uc002whm.3_Missense_Mutation_p.D564N|PTPRA_uc002whn.3_Missense_Mutation_p.D788N|PTPRA_uc002who.3_Missense_Mutation_p.D460N	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	797					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCATTCTCAGATTATGCCAA	0.413000														82			53		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52951768	52951769	+	Missense_Mutation	DNP	GG	AA	AA	rs150440372		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:52951768_52951769GG>AA	uc001vgo.3	-	4	2881_2882	c.2336_2337CC>TT	c.(2335-2337)tcc>tTT	p.S779F	THSD1_uc001vgp.3_Missense_Mutation_p.S726F|THSD1_uc010tgz.2_Missense_Mutation_p.S400F	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	779						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TATCTTTGGGGGATATGGGAGA	0.525000														124			69		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624465	53624465	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:53624465C>T	uc001vhl.3	+	4	1188	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	364	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTCAAACTCTCCCTAATGCTG	0.408000														147			128		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056185	50056185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:50056185G>A	uc003jon.4	+	5	516	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Missense_Mutation_p.E112K|PARP8_uc003jop.3_Missense_Mutation_p.E112K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	112						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTACAAAAGGAAAATGGGGA	0.229000														14			11		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117383	3117383	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3117383C>T	uc002ctq.3	+	2	116	c.21C>T	c.(19-21)ctC>ctT	p.L7L	IL32_uc002ctn.3_Silent_p.L7L|IL32_uc002ctk.3_Silent_p.L7L|IL32_uc002cto.3_Silent_p.L7L|IL32_uc010uwp.2_Silent_p.L7L|IL32_uc010btb.3_5'UTR|IL32_uc002ctl.3_Silent_p.L7L|IL32_uc002ctm.3_Silent_p.L7L|IL32_uc002ctp.3_Silent_p.L7L|IL32_uc010uwq.1_Silent_p.L7L|IL32_uc002ctr.3_Silent_p.L7L|IL32_uc002ctt.3_Silent_p.L7L|IL32_uc010uwr.2_Silent_p.L7L|IL32_uc002ctu.3_Silent_p.L7L|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	7					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGCAGGTCCTCTCTGATGACA	0.512000														48			51		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883624	66883624	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:66883624C>T	uc002jhq.3	-	24	3508	c.3168G>A	c.(3166-3168)cgG>cgA	p.R1056R	ABCA8_uc002jhp.3_Silent_p.R1016R|ABCA8_uc010wqq.2_Silent_p.R1056R|ABCA8_uc010wqr.2_Silent_p.R995R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1016						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTCCGGAAATCCGTAGCTGGG	0.423000														119			150		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986544	51986544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51986544C>T	uc002pwv.1	+	4	1130	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	377						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCCAGGCCCCCCATGAGTGC	0.612000														26			22		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394087	154394087	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:154394087G>A	uc010jih.1	+	0	828	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	223	Kinesin-motor.			R -> G (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.Q222K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAGAGCAAAGAAAGAAAAGT	0.478000														18			15		0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776715	150776715	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150776715C>T	uc003wix.1	-	1	475	c.377G>A	c.(376-378)gGg>gAg	p.G126E	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.G126E|FASTK_uc003wja.1_Missense_Mutation_p.G92E	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	126					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGGCCGAGACCCCAAGAGCTG	0.642000														32			16		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317950	30317950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:30317950G>A	uc009xle.2	-	2	1264	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	KIAA1462_uc001iux.3_Missense_Mutation_p.P376L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P238L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	376	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCTCGGTCGGAGACTGCTG	0.627000														50			68		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596859	72596859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:72596859G>A	uc003pga.3	+	0	210	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	45	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCGGCAGAAGGAAGAGGAGGA	0.602000														1			13		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168236	19168236	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:19168236G>A	uc001bba.1	-	4	1579	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	526					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.F525F(1)		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)	CAGTGTGGTTGAGGAAGGTGC	0.607000														58			45		0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411705	39411705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39411705C>T	uc021txh.1	+	0	70	c.68C>T	c.(67-69)aCt>aTt	p.T23I		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	23						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AAGCCCACCACTGTGACCACC	0.622000														30			25		0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76620920	76620920	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:76620920G>A	uc001xsh.3	+	1	300	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	C14orf118_uc001xsi.3_Missense_Mutation_p.A72T|C14orf118_uc001xsj.1_Missense_Mutation_p.A72T|C14orf118_uc001xsk.1_Missense_Mutation_p.A72T|C14orf118_uc001xsl.3_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	72										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		TCTGGATGAGGCCACTAAGGA	0.537000														35			28		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156081	160156081	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:160156081C>T	uc001fve.4	+	20	3464	c.2985C>T	c.(2983-2985)ctC>ctT	p.L995L	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.L498L|ATP1A4_uc001fvh.3_Silent_p.L131L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGTGGCTCTGTGCCATTC	0.552000														171			290		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329191	51329191	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51329191C>T	uc002ptl.3	-	4	663	c.632G>A	c.(631-633)gGa>gAa	p.G211E	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Missense_Mutation_p.G126E|KLK15_uc002ptn.3_3'UTR|KLK15_uc002pto.3_Missense_Mutation_p.G210E|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_3'UTR|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	211	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACCAGGGGTCCCCCAGAGTC	0.557000														20			20		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977434	71977434	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:71977434C>T	uc001swl.3	+	17	1692	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	LGR5_uc001swm.3_Silent_p.F524F|LGR5_uc021rar.1_Silent_p.F476F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	548						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TAGGCCCCTTCAAACCCTGTG	0.433000														159			113		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796204	2796204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:2796204G>A	uc022aqr.1	-	69	10988	c.10598C>T	c.(10597-10599)tCg>tTg	p.S3533L	CSMD1_uc011kwj.2_Missense_Mutation_p.S2848L|CSMD1_uc010lrg.3_Missense_Mutation_p.S1425L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3534						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)		GTTTTCAAACGATGCTTGTCC	0.413000														12			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354168	10354168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10354168G>A	uc002gmn.3	-	28	4021	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1304					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1304Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGGGATAGCTGAGAAACCATA	0.383000														4			60		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27412604	27412604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27412604C>T	uc001iti.3	-	10	1355	c.1145G>A	c.(1144-1146)gGg>gAg	p.G382E	YME1L1_uc001itj.3_Missense_Mutation_p.G325E|YME1L1_uc010qdl.2_Missense_Mutation_p.G292E	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTCCAGTCCCTGGGGGTCC	0.378000														54			50		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121518977	121518977	+	Silent	SNP	T	C	C	rs148469883		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:121518977T>C	uc003ypc.1	+	15	1804	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	587	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCTGAACAGTTGCTGGGCCA	0.403000														76			28		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110682807	110682807	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:110682807G>A	uc011cft.2	-	3	732	c.524C>T	c.(523-525)tCt>tTt	p.S175F	CFI_uc003hzq.3_5'UTR|CFI_uc003hzr.4_Missense_Mutation_p.S175F	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	175	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGAATTTATAGAGAGATCAGA	0.358000														47			45		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856421	93856421	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:93856421G>A	uc011cuk.2	-	4	759	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	KIAA0825_uc003kkp.2_Missense_Mutation_p.L168F	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	168										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAGCGTCGAAGATGCAGTCTT	0.353000														28			23		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898197	175898197	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:175898197G>A	uc003iuc.3	+	4	2191	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	ADAM29_uc003iud.3_Silent_p.R507R|ADAM29_uc010irr.3_Silent_p.R507R|ADAM29_uc011cki.2_Silent_p.R507R|ADAM29_uc021xuo.1_Silent_p.R507R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	507	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGTAGGAGGATTTTTGGTG	0.448000														75			54		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628163	71628163	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:71628163G>A	uc004agy.3	-	0	877	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	282	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.R281C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGGTTTCCGAAGCGCTTGG	0.567000														88			45		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148844	103148844	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:103148844G>A	uc002tbz.4	+	11	2551	c.2094G>A	c.(2092-2094)cgG>cgA	p.R698R		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	698					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.S697A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATGCTCTCGGATAGGGTCAC	0.448000														46			70		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123097760	123097760	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:123097760A>T	uc001ucv.3	+	53	5887	c.5724A>T	c.(5722-5724)aaA>aaT	p.K1908N	KNTC1_uc010taf.2_Missense_Mutation_p.K833N	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1908					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTTTAAAAAACCCATTGAAG	0.343000														25			24		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370994	240370994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:240370994G>A	uc010pye.2	+	5	3119	c.2894G>A	c.(2893-2895)gGg>gAg	p.G965E	FMN2_uc010pyd.2_Missense_Mutation_p.G961E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	961	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTTCCCGGGGCAGGCATA	0.692000														154			62		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758423	111758423	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:111758423C>T	uc001tsa.2	+	16	2764	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	870						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACTACCCGGCCTACGTGCCGC	0.731000														5			18		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420557	89420557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:89420557G>A	uc001pda.3	+	8	1085	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	187					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCTCTTTATGAAAGTTGGAC	0.343000														23			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833673	61833673	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61833673C>T	uc001jky.3	-	36	7304	c.6966G>A	c.(6964-6966)atG>atA	p.M2322I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2322					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						GTTTGGGTTTCATTTGGTTGT	0.448000														62			33		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418827	8418827	+	Silent	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:8418827C>A	uc001ape.3	-	20	4578	c.3768G>T	c.(3766-3768)ctG>ctT	p.L1256L	RERE_uc001apf.3_Silent_p.L1256L|RERE_uc001apd.3_Silent_p.L702L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1256					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGTACTCGCTCAGAGTCCGAA	0.657000														72			56		7.92265e-33	8.02357e-33	1	1	0
GPR174	84636	broad.mit.edu	37	X	78426877	78426877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:78426877C>T	uc004edg.1	+	0	409	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	125						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTACCCCTTTCGCTTCCATGA	0.458000										HNSCC(63;0.18)				8			131		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148989212	148989212	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:148989212G>A	uc003lra.1	+	3	476	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	138	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.E138D(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTACCGGAAGGAGCCGGAGCT	0.567000														65			40		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012771	73012771	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:73012771C>T	uc001sxa.3	+	12	2317	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	763					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						AGCTCTTTATCCTCTAGATAA	0.363000														27			19		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792937	21792937	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:21792937C>T	uc001wag.3	+	13	1923	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	RPGRIP1_uc001wah.3_Silent_p.A283A|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Silent_p.A106A|RPGRIP1_uc001wak.3_Silent_p.A116A|RPGRIP1_uc010aim.3_Silent_p.A24A|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	641					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATCTGCCGCCCTAGCTCAGG	0.512000														55			40		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690337	33690337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:33690337C>T	uc002hjg.4	-	1	737	c.490G>A	c.(490-492)Gga>Aga	p.G164R	SLFN11_uc010ctr.3_Missense_Mutation_p.G164R|SLFN11_uc010ctp.3_Missense_Mutation_p.G164R|SLFN11_uc010ctq.3_Missense_Mutation_p.G164R|SLFN11_uc002hjh.4_Missense_Mutation_p.G164R	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	164						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAAAAGGTCCTTCTTCCAAG	0.443000														67			61		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443559	78443559	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:78443559G>A	uc001ozl.4	-	20	3403	c.2940C>T	c.(2938-2940)atC>atT	p.I980I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	980					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCTCCTGTGTGATGAAAGGTG	0.547000														21			12		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589615	140589615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140589615G>A	uc003liz.3	+	0	1325	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	PCDHB12_uc011dak.2_Missense_Mutation_p.G42E	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	379	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGACAACGGAAAGATGGTT	0.448000														31			27		0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107002835	107002836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:107002835_107002836GG>AA	uc003vec.2	-	8	1483_1484	c.958_959CC>TT	c.(958-960)cca>TTa	p.P320L	COG5_uc003ved.2_Missense_Mutation_p.P320L|COG5_uc003vee.2_Missense_Mutation_p.P320L	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	320					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGTATTTCCTGGGGTTGGCATG	0.376000														31			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820757	2820757	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:2820757G>A	uc022aqr.1	-	59	9831	c.9441C>T	c.(9439-9441)atC>atT	p.I3147I	CSMD1_uc011kwj.2_Silent_p.I2477I|CSMD1_uc010lrg.3_Silent_p.I1039I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3148	Sushi 25.					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)		GACACTGGGGGATCTCTCCTT	0.552000														77			82		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840521	159840521	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:159840521T>A	uc003lyg.3	-	4	667	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	171					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			ATTGTAGCCATTCCACCGATC	0.423000														83			51		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508366	37508366	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:37508366G>A	uc021ppc.1	+	33	3657	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T	ANKRD30A_uc001iza.1_Silent_p.T1186T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1242						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						TGAGTAGTACGATATATAACA	0.363000														19			17		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46275833	46275833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:46275833C>T	uc002xtk.3	+	17	3530	c.3269C>T	c.(3268-3270)cCc>cTc	p.P1090L	NCOA3_uc002xtl.3_Missense_Mutation_p.P1090L|NCOA3_uc002xtn.3_Missense_Mutation_p.P1090L|NCOA3_uc010ght.2_Missense_Mutation_p.P1085L|NCOA3_uc002xtm.3_Missense_Mutation_p.P1090L|NCOA3_uc010zyc.2_Missense_Mutation_p.P885L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1090	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCATTAGAGCCCAAACAGGAT	0.428000														66			43		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141537835	141537835	+	Silent	SNP	G	A	A	rs149011966		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141537835G>A	uc003vws.2	-	2	627	c.255C>T	c.(253-255)atC>atT	p.I85I	PRSS37_uc011krl.2_Silent_p.I85I|PRSS37_uc011krk.2_Silent_p.I72I|PRSS37_uc003vwt.2_Silent_p.I42I	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I85I(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGTAGCGGACGATCTGAATGG	0.507000														147			251		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49764870	49764870	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:49764870C>T	uc002efs.3	-	3	387	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	30					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCTGGCTCTCCTTCTAGGCC	0.488000														198			88		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100962942	100962942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:100962942C>T	uc003duq.2	-	12	2436	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	IMPG2_uc011bhe.2_Missense_Mutation_p.E608K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	745					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCATATCCTCCCTTAGGATG	0.403000														61			67		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801052	185801052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185801052C>T	uc002uph.3	+	3	1523	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	310						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTACCTTCATTTTGCAAG	0.338000														21			29		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66410038	66410038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:66410038C>T	uc021xzk.1	+	11	1890	c.1582C>T	c.(1582-1584)Ccc>Tcc	p.P528S	MAST4_uc003jus.3_Missense_Mutation_p.P339S|MAST4_uc003jut.2_Missense_Mutation_p.P339S|MAST4_uc003juu.1_Missense_Mutation_p.P349S|MAST4_uc011cra.1_Missense_Mutation_p.P322S|MAST4_uc003juv.2_Missense_Mutation_p.P334S|MAST4_uc003juw.3_Missense_Mutation_p.P334S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	531						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAATAAGGATCCCTTGGAAGG	0.453000														13			18		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335833	117335833	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:117335833G>A	uc001prh.1	-	16	3272	c.3270C>T	c.(3268-3270)agC>agT	p.S1090S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1030	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGCCGGGGCTGTTCTCTC	0.597000														5			104		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25661866	25661866	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25661866G>A	uc003nfb.3	+	2	443	c.240G>A	c.(238-240)atG>atA	p.M80I	SCGN_uc010jpz.3_5'UTR	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	80	EF-hand 2.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCATTCGGATGAAAGAGGTAA	0.388000														75			31		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9000287	9000287	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:9000287C>G	uc002czl.2	-	12	1623	c.1424G>C	c.(1423-1425)gGc>gCc	p.G475A	USP7_uc010uyk.1_Missense_Mutation_p.G376A|USP7_uc010uyj.1_Missense_Mutation_p.G376A|USP7_uc002czk.2_Missense_Mutation_p.G459A|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	475					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTACTTTGCCATCCCCTTT	0.463000														52			45		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916670	42916670	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:42916670G>A	uc003cmh.3	-	0	964	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	213					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAAACCTTGGGAAAAGAAGGT	0.562000														51			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90154175	90154175	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:90154175G>A	uc010yts.2	+	32		c.3907G>A								Parts of antibodies, mostly variable regions.																		CAGTGGGTCTGGGACAGAGTT	0.537000														30			38		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015639	130015639	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:130015639G>A	uc009zyl.1	-	2	1408	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	360						integral to membrane		p.I360I(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTGACAAACGATGACAGCTG	0.483000														18			31		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541884	133541884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:133541884C>T	uc002ttp.3	-	13	2874	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	834							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						GGTGATTTTTCAAGAGTCACC	0.483000														72			78		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434020	22434020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:22434020G>A	uc021rpm.1	+	1	111	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		CCAACAGAAGGAGGTGGAGCA	0.463000														27			23		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123914909	123914909	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:123914909G>T	uc004bkx.1	+	23	4141	c.4110G>T	c.(4108-4110)aaG>aaT	p.K1370N	CNTRL_uc004bla.1_Missense_Mutation_p.K818N|CNTRL_uc010mvo.1_Missense_Mutation_p.K39N|CNTRL_uc004blb.1_Missense_Mutation_p.K39N	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1370					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGCAAGAGAAGAAAAGCTTAG	0.358000														81			23		8.58068e-18	8.66928e-18	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167379611	167379611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:167379611G>A	uc010jjd.3	+	3	731	c.731G>A	c.(730-732)aGc>aAc	p.S244N	ODZ2_uc021yhi.1_Missense_Mutation_p.S174N|ODZ2_uc003lzq.2_Missense_Mutation_p.S123N|ODZ2_uc003lzr.4_Missense_Mutation_p.S53N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AACCACCACAGCCAGTCGACT	0.547000														12			11		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306726	175306726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:175306726C>T	uc001gkp.1	-	16	3553	c.3472G>A	c.(3472-3474)Ggg>Agg	p.G1158R	TNR_uc009wwu.1_Missense_Mutation_p.G1158R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1158	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCAGCTCCCCATTGAGGAAG	0.527000														76			33		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779053	3779053	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3779053C>T	uc002lyt.3	-	11	1534	c.1134G>A	c.(1132-1134)cgG>cgA	p.R378R	MATK_uc002lyv.3_Silent_p.R379R|MATK_uc002lyu.3_Silent_p.R337R|MATK_uc010dtq.3_Silent_p.R378R|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	378	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGCCCCTTCCGCTCGGCTT	0.657000														14			18		0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151268	13151269	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:13151268_13151269CC>TT	uc001ilu.1	+	3	584_585	c.146_147CC>TT	c.(145-147)acc>aTT	p.T49I	OPTN_uc001ilv.1_Missense_Mutation_p.T49I|OPTN_uc001ilw.1_Missense_Mutation_p.T49I|OPTN_uc001ilx.1_Missense_Mutation_p.T49I|OPTN_uc001ily.1_Missense_Mutation_p.T49I|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	49					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCTCCTGACCGAGAACCACC	0.594000														41			36		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542347	55542347	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55542347G>A	uc003xsd.1	+	3	6053	c.5905G>A	c.(5905-5907)Gaa>Aaa	p.E1969K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1969					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)			TGTGTTCAGGGAAGAGAACAA	0.308000														22			16		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55192355	55192355	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:55192355G>A	uc003pcm.1	+	0	89	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	1						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTCCAGCATGATAGTGTTTA	0.378000														117			55		0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431625	233431625	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233431625C>T	uc002vta.3	+	4	540	c.462C>T	c.(460-462)gcC>gcT	p.A154A	EIF4E2_uc002vtb.1_Silent_p.A154A|EIF4E2_uc010zmi.1_Silent_p.A109A	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	154	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCATTTTGGCCATGCTGGGGG	0.527000														65			92		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311088	116311088	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:116311088G>A	uc001efx.4	-	0	339	c.75C>T	c.(73-75)ttC>ttT	p.F25F	CASQ2_uc010owu.2_Silent_p.F25F	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	25					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATATGTGGGGAAATTAAGCC	0.423000														59			34		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120349040	120349040	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:120349040C>T	uc001pxl.2	+	36	4043	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I	ARHGEF12_uc009zat.3_Silent_p.I1217I|ARHGEF12_uc009zau.1_Silent_p.I1133I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1236					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAATCGCAATCCCAGATTCAC	0.398000			T	MLL	AML									12			68		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475608	228475608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228475608G>A	uc009xez.1	+	35	9802	c.9758G>A	c.(9757-9759)cGg>cAg	p.R3253Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R3253Q|OBSCN_uc001hsq.1_Missense_Mutation_p.R509Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3253	Ig-like 32.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				GACAGCGGGCGGTACTCATGC	0.607000														23			46		0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64022544	64022544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:64022544G>A	uc001jlw.3	-	1	194	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ZNF365_uc001jly.4_Intron|RTKN2_uc001jlx.2_Nonsense_Mutation_p.R33*	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	33					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTCGCATTCGAATTTCTAAG	0.333000														10			7		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880715	74880715	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:74880715C>T	uc001owb.3	+	5	1082	c.687C>T	c.(685-687)atC>atT	p.I229I	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Silent_p.I85I|SLCO2B1_uc010rrs.2_Silent_p.I113I|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Silent_p.I207I	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	229					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTGTAGGGATCCTGTTTGCAG	0.567000														64			64		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657112	81657112	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:81657112C>T	uc001szo.2	-	30	3771	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E1103K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E1099K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E1198K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E1183K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E1189K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E1204K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E740K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E390K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1104										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCATGTACTTCACGAGGAGGA	0.438000														32			19		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726819	18726820	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18726819_18726820CC>TT	uc010ebu.1	+	3	530_531	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F	TMEM59L_uc002njy.4_Missense_Mutation_p.S148F	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	148						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGGCCCTCTCCCTCTTGGACT	0.510000														39			41		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408196	10408196	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10408196C>T	uc002gmo.3	-	21	2716	c.2622G>A	c.(2620-2622)agG>agA	p.R874R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	874						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGCTCTTTCCTTTTTGCCT	0.433000														3			21		0	0	1	0	0
FAM150A	389658	broad.mit.edu	37	8	53454956	53454956	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:53454956G>A	uc003xrd.3	-	1	445	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FAM150A_uc011ldt.2_Silent_p.F80F	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	80						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ACTTACCTGTGAAATGCTTTA	0.303000														10			4		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131641406	131641406	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:131641406T>C	uc021qav.1	-	11	1221	c.1120A>G	c.(1120-1122)Aac>Gac	p.N374D	EBF3_uc001lki.2_Missense_Mutation_p.N388D	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	397					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTACCTGGTTGTTGTGAGGC	0.612000														38			15		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263477	248263477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248263477C>T	uc001ids.3	+	2	1137	c.800C>T	c.(799-801)cCa>cTa	p.P267L	OR2L13_uc021pmc.1_Missense_Mutation_p.P267L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCCGCTCACCAGCTGAAGAC	0.468000														124			62		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793365	17793365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:17793365G>A	uc009yhc.1	+	1	779	c.724G>A	c.(724-726)Gag>Aag	p.E242K	KCNC1_uc001mnk.4_Missense_Mutation_p.E242K	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGCCGAGACGGAGGCCTTCCT	0.567000														65			61		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051268	85051268	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:85051268G>A	uc010ysl.2	-	5	1232	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	C2orf89_uc002sou.4_Silent_p.V332V	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	381						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CCAGGGTAGGGACTTTTGGAG	0.582000														13			18		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242273	18242273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:18242273C>T	uc001ipo.2	+	1	341	c.68C>T	c.(67-69)tCt>tTt	p.S23F	SLC39A12_uc001ipn.2_Missense_Mutation_p.S23F|SLC39A12_uc001ipp.2_Missense_Mutation_p.S23F|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	23					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F22V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CGTGTTTTTTCTACTGAGACA	0.537000														54			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535871	179535871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179535871G>A	uc021vsy.1	-	150	31576	c.31351C>T	c.(31351-31353)Cct>Tct	p.P10451S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P7112S|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11378	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)			TTTTTTGGAGGGATGATTTTC	0.358000														17			26		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031008	119031008	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:119031008C>T	uc001pvs.3	+	12	1845	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	ABCG4_uc009zar.3_Silent_p.F503F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	503	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGCCGCTTCCTGCTCTTCT	0.652000														5			40		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442052	41442052	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41442052C>T	uc010ehg.1	+	1	230	c.222C>T	c.(220-222)ccC>ccT	p.P74P	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.P74P|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GACCGAGGCCCGTGGTCATGC	0.577000														27			25		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478616	21478616	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21478616G>A	uc003cce.3	-	4	927	c.519C>T	c.(517-519)atC>atT	p.I173I	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	173	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTAGAGGTGATCTCAGTTG	0.448000														57			39		0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33583599	33583599	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:33583599C>T	uc009vug.3	+	7	1258	c.1186C>T	c.(1186-1188)Cta>Tta	p.L396L	ADC_uc001bwr.3_Silent_p.L376L|ADC_uc001bws.3_Silent_p.L376L|ADC_uc009vue.3_Silent_p.L376L|ADC_uc001bwt.1_Silent_p.L281L|ADC_uc001bwu.3_Silent_p.L281L|ADC_uc001bwv.3_Silent_p.L281L|ADC_uc001bwx.1_Silent_p.L353L	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	376					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	p.S396F(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GCTGCCGCAACTACACGTAGG	0.627000														50			55		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102479818	102479818	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:102479818A>G	uc001phc.3	-	4	674	c.661T>C	c.(661-663)Ttt>Ctt	p.F221L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	221					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)		GCAACGGTAAACAAATTAAAA	0.398000														22			18		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299644	125299644	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:125299644C>T	uc004euk.2	-	0	437	c.264G>A	c.(262-264)acG>acA	p.T88T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	88										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCTGGCGCTCCGTCAGCAGCT	0.682000														1			42		0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233930	120233930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:120233930C>T	uc003yop.3	+	2	338	c.236C>T	c.(235-237)tCg>tTg	p.S79L		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	79	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTTCTTTTCGCTCCTCTTT	0.458000														127			103		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818163	70818163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:70818163G>A	uc003kbp.1	+	22	5302	c.5039G>A	c.(5038-5040)aGg>aAg	p.R1680K	BDP1_uc003kbo.3_Missense_Mutation_p.R1680K|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1680					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGACAAGAAGGAAATTCCAA	0.363000														73			63		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541067	35541067	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:35541067G>A	uc003xjr.2	+	4	901	c.573G>A	c.(571-573)gtG>gtA	p.V191V	UNC5D_uc003xjs.2_Silent_p.V186V|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	191	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCTGTAGGTGGAATGGCTGA	0.448000														18			15		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45820199	45820199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:45820199G>A	uc010gpt.1	+	14	2366	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	TRPM2_uc002zet.1_Missense_Mutation_p.V756M|TRPM2_uc002zeu.1_Missense_Mutation_p.V756M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.V756M|TRPM2_uc002zex.1_Missense_Mutation_p.V542M|TRPM2_uc002zey.1_Missense_Mutation_p.V269M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	756						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGTGGCGTGTGACCCTGTG	0.682000														86			47		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922086	37922086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37922086G>A	uc002hsu.3	-	7	1549	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	IKZF3_uc002htd.3_Missense_Mutation_p.S462L|IKZF3_uc010cwd.3_Missense_Mutation_p.S353L|IKZF3_uc002hsv.3_Missense_Mutation_p.S423L|IKZF3_uc010cwe.3_Missense_Mutation_p.S362L|IKZF3_uc010cwf.3_Missense_Mutation_p.S314L|IKZF3_uc010cwg.3_Missense_Mutation_p.S275L|IKZF3_uc002hsw.3_Missense_Mutation_p.S457L|IKZF3_uc002hsx.3_Missense_Mutation_p.S440L|IKZF3_uc002hsy.3_Missense_Mutation_p.S457L|IKZF3_uc002hsz.3_Missense_Mutation_p.S401L|IKZF3_uc002hta.3_Missense_Mutation_p.S418L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.S409L|IKZF3_uc002htc.3_Missense_Mutation_p.S249L|IKZF3_uc010wel.2_Missense_Mutation_p.S249L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	496					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATGTGAGACGAGAACTCATA	0.473000														86			76		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	799501	799501	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:799501G>A	uc001lro.2	-	15	2686	c.2539C>T	c.(2539-2541)Cca>Tca	p.P847S	SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.P690S|PIDD_uc001lrm.1_Missense_Mutation_p.P534S|PIDD_uc001lrn.2_Missense_Mutation_p.P690S|PIDD_uc001lrk.2_Missense_Mutation_p.P830S|PIDD_uc001lrp.2_3'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	847	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										ACAGCCCCTGGCTGCCCAGCC	0.662000														23			33		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5106112	5106112	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:5106112G>A	uc010bud.3	-	4	942	c.705C>T	c.(703-705)aaC>aaT	p.N235N	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.N235N	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	235						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGCTCTGCGGTTCAAGTCCA	0.562000														62			30		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644527	110644527	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:110644527G>A	uc004epd.3	-	2	811	c.639C>T	c.(637-639)ttC>ttT	p.F213F	DCX_uc011msv.2_Silent_p.F213F|DCX_uc004epe.3_Silent_p.F132F|DCX_uc004epf.3_Silent_p.F132F|DCX_uc004epg.3_Silent_p.F132F	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	213	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCTTTTTAAAGAAGTTGTCTG	0.398000														5			71		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383065	48383065	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:48383065C>T	uc001rqu.3	-	18	1250	c.1069_splice	c.e18-1	p.G357_splice	COL2A1_uc009zkw.3_5'Flank|COL2A1_uc001rqv.3_Splice_Site_p.G288_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	357	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)	CGACAGGACCCTGGAGAGAGT	0.597000														9			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140737080	140737080	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140737080C>T	uc003ljq.2	+	0	2313	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.S771S|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	779					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTCTCCCAACCCAGCT	0.552000														106			63		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149681	50149681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:50149681G>A	uc002itv.4	-	2	888	c.152C>T	c.(151-153)cCa>cTa	p.P51L	CA10_uc002itw.4_Missense_Mutation_p.P45L|CA10_uc002itx.4_Missense_Mutation_p.P45L|CA10_uc002ity.4_Missense_Mutation_p.P45L|CA10_uc002itz.2_Missense_Mutation_p.P45L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	45					brain development			p.W50C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTACTTACCTGGAACAAAGCT	0.368000														36			61		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213079	35213079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:35213079G>A	uc003okf.1	+	18	2482	c.2476G>A	c.(2476-2478)Gct>Act	p.A826T	SCUBE3_uc003okg.1_Missense_Mutation_p.A825T|SCUBE3_uc003okh.1_Missense_Mutation_p.A713T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	826	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACTACCCAGCTGGTGTGGA	0.552000														147			74		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230282870	230282870	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:230282870C>T	uc002vpv.3	-	8	1710	c.1563G>A	c.(1561-1563)agG>agA	p.R521R		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	521	EGF-like 8; calcium-binding (Potential).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TAACGAGGTCCCTGCAGGTGG	0.537000														49			86		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596481	148596481	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:148596481C>T	uc003ewm.3	+	4	472	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	140					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.V140V(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGAAATGGTCTCTCGTATTA	0.299000														52			35		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132632120	132632120	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:132632120G>T	uc004bys.2	+	13	1773	c.1562G>T	c.(1561-1563)cGa>cTa	p.R521L	USP20_uc004byr.2_Missense_Mutation_p.R521L|USP20_uc004byt.1_Missense_Mutation_p.R521L	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	521					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTACATCCGACGGTGCGCC	0.617000														49			49		3.74213e-36	3.79282e-36	1	1	0
MEGF11	84465	broad.mit.edu	37	15	66257437	66257437	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:66257437G>A	uc002apm.2	-	8	1062	c.921C>T	c.(919-921)ttC>ttT	p.F307F	MEGF11_uc002apl.2_Silent_p.F232F|MEGF11_uc002apn.1_Silent_p.F307F	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	307						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGAAGGACCCGAAGGGGCACT	0.627000														5			10		0	0	1	0	0
XAGE3	170626	broad.mit.edu	37	X	52896162	52896162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:52896162C>T	uc004dre.3	-	1	63	c.3G>A	c.(1-3)atG>atA	p.M1I	XAGE3_uc004drf.3_Missense_Mutation_p.M1I	NM_130776	NP_573440	Q8WTP9	GAGD4_HUMAN	Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA.	1										kidney(1)|large_intestine(1)|lung(2)	4						CTCGCCAAATCATATTTCACA	0.418000														4			53		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911228	202911228	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:202911228C>T	uc001gyq.4	-	6	1191	c.924G>A	c.(922-924)gtG>gtA	p.V308V	ADIPOR1_uc010pqd.2_Silent_p.V232V|ADIPOR1_uc001gyr.4_Silent_p.V107V|ADIPOR1_uc001gys.4_Silent_p.V308V	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	308					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.V308V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATGTACATCACAGCCATGA	0.512000														81			32		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44151446	44151446	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:44151446C>T	uc003owt.1	+	21	2177	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	713	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGCAGCATTCTTTCTAACCA	0.532000														21			38		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137630613	137630613	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:137630613A>G	uc004cfe.3	+	10	1835	c.1453A>G	c.(1453-1455)Acc>Gcc	p.T485A		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	485	Interrupted collagenous 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)		ACCTCCAGGAACCATGGGTCC	0.562000														67			11		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102776269	102776269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:102776269G>A	uc003hvy.4	+	2	821	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BANK1_uc003hvx.4_Missense_Mutation_p.E168K|BANK1_uc010ill.3_Missense_Mutation_p.E50K|BANK1_uc003hvz.4_Missense_Mutation_p.E153K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	183					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGAGAAAGGAAATTGAAGA	0.378000														27			15		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134578	128134578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:128134578C>T	uc011ebt.2	-	3	1357	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	THEMIS_uc010kfa.3_Missense_Mutation_p.G306E|THEMIS_uc021zfa.1_Missense_Mutation_p.G403E|THEMIS_uc010kfb.3_Missense_Mutation_p.G368E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	403	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTTTTTATTCCCTCACAGAG	0.468000														1			17		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52184252	52184252	+	Missense_Mutation	SNP	C	T	T	rs76009743		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:52184252C>T	uc001ryw.3	+	24	4668	c.4490C>T	c.(4489-4491)tCa>tTa	p.S1497L	SCN8A_uc010snl.2_Missense_Mutation_p.S1456L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1497					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAGCTGGGCTCAAAGAAGCCA	0.458000														19			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596985	179596985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179596985G>A	uc021vsy.1	-	53	13204	c.12979C>T	c.(12979-12981)Cct>Tct	p.P4327S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P988S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5254	Ig-like 23.						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)			TTAATTGGAGGGGTACCAGTT	0.428000														134			49		0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175989	57175989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:57175989G>A	uc001smg.1	+	2	655	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	182					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCCAAGTATGGAGTGGAAGCC	0.428000														16			19		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194056	70194056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:70194056C>T	uc001svp.3	+	6	1451	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	RAB3IP_uc001svm.3_Missense_Mutation_p.P319L|RAB3IP_uc001svn.3_Missense_Mutation_p.P319L|RAB3IP_uc001svo.3_Intron|RAB3IP_uc001svq.3_Missense_Mutation_p.P335L|RAB3IP_uc001svs.3_Intron|RAB3IP_uc001svt.3_Missense_Mutation_p.P113L|Mir_548_uc021rap.1_5'Flank	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	335					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGACGTGTCCTTTCTTAGAC	0.343000														27			21		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37923931	37923931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:37923931G>A	uc003tfn.3	+	12	1393	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	341	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TATTAAAGATGAAGACTTCAA	0.279000														25			45		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743173	102743173	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:102743173T>C	uc001krw.2	+	13	2201	c.1817T>C	c.(1816-1818)aTg>aCg	p.M606T	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	601	Ig-like C2-type.				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)		AATGGGAGCATGGGCCTGAGC	0.632000														19			12		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536486	4536486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:4536486G>A	uc002fyh.3	-	9	1398	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	ALOX15_uc010vsd.2_Missense_Mutation_p.S419F|ALOX15_uc010vse.2_Missense_Mutation_p.S480F	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	458	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGCATAGAAGGAAGACTTCAC	0.592000														2			20		0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1255908	1255908	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:1255908C>T	uc001aef.1	-	5	658	c.145_splice	c.e5-1	p.R49_splice	CPSF3L_uc001aee.1_Splice_Site_p.R43_splice|CPSF3L_uc009vjz.1_Splice_Site_p.R43_splice|CPSF3L_uc010nyj.1_Splice_Site_p.R14_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Intron|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_3'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	43						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGAAGCGTCGCTAGGAAGG	0.607000														60			57		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540500	55540500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55540500C>T	uc003xsd.1	+	3	4206	c.4058C>T	c.(4057-4059)aCt>aTt	p.T1353I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1353					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)			AACACATATACTGATAACTTG	0.348000														34			22		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608128	28608128	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:28608128C>T	uc001urw.3	-	15	1920	c.1838_splice	c.e15-1	p.G613_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.G613_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	613	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G613_K614ins23(1)		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)	TAGTACCTTCCCTGCAAAGAC	0.403000			"""Mis, O"""		"""AML, ALL"""									81			61		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266424	38266424	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:38266424C>T	uc010abx.3	-	3	1181	c.946G>A	c.(946-948)Gat>Aat	p.D316N	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.D316N|TRPC4_uc001uws.3_Missense_Mutation_p.D316N|TRPC4_uc010tey.2_Missense_Mutation_p.D316N|TRPC4_uc010abw.3_Missense_Mutation_p.D143N|TRPC4_uc010aby.3_Missense_Mutation_p.D316N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	316					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGAAACTCATCGTACCAGCGA	0.458000														40			40		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23476513	23476513	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:23476513G>A	uc002wth.1	+	3	748	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	131						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTGGAATGGTGAATTCACTGT	0.368000														55			51		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691090	84691090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:84691090C>T	uc002fig.3	+	2	818	c.677C>T	c.(676-678)gCc>gTc	p.A226V	KLHL36_uc010chl.3_Missense_Mutation_p.A225V	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	226	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCGCGAGGCCCACGCCCGC	0.682000														32			25		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52498061	52498061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:52498061C>T	uc002egw.2	-	2	364	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	TOX3_uc010vgt.1_Missense_Mutation_p.E60K	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	65					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.E65*(2)|p.E60*(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTGGAATTTCGAATTCCTCG	0.498000														93			80		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:176709307G>A	uc001gkz.3	+	13	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483000														57			17		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578746	9578746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9578746C>T	uc002mlp.1	-	9	1087	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	ZNF560_uc010dwr.1_Missense_Mutation_p.E187K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAGTGCCTTCAAAGGATTTA	0.393000														44			41		0	0	1	0	0
ZNF524	147807	broad.mit.edu	37	19	56114179	56114179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56114179C>T	uc002qlk.1	+	1	784	c.701C>T	c.(700-702)cCa>cTa	p.P234L	FIZ1_uc002qlj.4_5'Flank|ZNF524_uc021vbz.1_Missense_Mutation_p.P234L	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	Homo sapiens zinc finger protein 524 (ZNF524), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCACCAGATCCAGGGTCTGAA	0.687000														10			10		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942727	227942727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:227942727C>T	uc021vxr.1	-	23	1971	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	COL4A4_uc021vxs.1_Missense_Mutation_p.A624T	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	624	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACAGGTCCTGCTTTGCCTGGG	0.607000														10			14		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995378	140995378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:140995378C>T	uc004fbt.3	+	3	2512	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P389S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	730							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGTTTCCTCCTCAGGG	0.547000										HNSCC(15;0.026)				3			84		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433451	39433451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:39433451G>A	uc001uwv.3	+	13	7552	c.7243G>A	c.(7243-7245)Gat>Aat	p.D2415N	FREM2_uc001uww.3_Missense_Mutation_p.D501N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2415					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D2415H(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCAGACTACGATAAAACAGG	0.498000														86			76		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74280975	74280975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:74280975G>A	uc002awe.3	-	3	630	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	STOML1_uc002awf.3_Nonsense_Mutation_p.Q187*|STOML1_uc010bje.3_Nonsense_Mutation_p.Q187*|STOML1_uc010uld.2_Nonsense_Mutation_p.Q145*|STOML1_uc002awh.3_Nonsense_Mutation_p.Q137*|STOML1_uc002awg.3_Nonsense_Mutation_p.Q137*	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	187						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTCTCCATCTGGATCTCCCGC	0.612000														31			33		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129748963	129748963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:129748963C>T	uc021zfb.1	+	40	6037	c.5932C>T	c.(5932-5934)Ctt>Ttt	p.L1978F	LAMA2_uc003qbn.3_Missense_Mutation_p.L1978F|LAMA2_uc003qbo.3_Missense_Mutation_p.L1978F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1978	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCAGGATTCTTAACGAAGC	0.373000														5			34		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25605104	25605104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25605104C>T	uc011djw.2	+	33	3985	c.3617C>T	c.(3616-3618)tCg>tTg	p.S1206L	LRRC16A_uc010jpy.3_Missense_Mutation_p.S1206L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1206					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTAGAACGGTCGGATGGAGGT	0.498000														8			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031019	21031019	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:21031019G>A	uc010vbe.2	-	40	5949	c.5949C>T	c.(5947-5949)atC>atT	p.I1983I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1983					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)		CCATGCCCATGATCAGGTTGC	0.453000														39			21		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702035	179702035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179702035C>T	uc002une.2	-	22	4029	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	CCDC141_uc002unf.1_Missense_Mutation_p.G783E	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	729							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCACGAATCCTCTGGAGGT	0.473000														47			94		0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92821926	92821926	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:92821926T>C	uc001tcb.1	-	1	1	c.-1_splice	c.e1-1		CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.											large_intestine(1)|lung(7)	8						tgttcatctgtagaaggggta	0.408000														55			49		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815101	101815101	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:101815101C>T	uc001pgm.3	+	2	624	c.354C>T	c.(352-354)ttC>ttT	p.F118F	KIAA1377_uc001pgn.3_Silent_p.F74F|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	118							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTGAAAAATTCCAGCGTGCCC	0.358000														22			13		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390105	48390105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:48390105C>T	uc001jez.3	-	0	887	c.773G>A	c.(772-774)cGg>cAg	p.R258Q		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	258	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCCAGTCCGCTCGCCCAC	0.657000														18			24		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151131060	151131060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151131060C>T	uc003eyp.3	+	39	6298	c.6169C>T	c.(6169-6171)Cga>Tga	p.R2057*	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2057	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R2057*(2)|p.R2057Q(1)		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)			GCCGCAAGTTCGACAGCAGCA	0.547000														55			59		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:51514603G>A	uc001zyz.4	-	5	822	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	CYP19A1_uc001zza.4_Silent_p.L191L|CYP19A1_uc001zzb.2_Silent_p.L191L|CYP19A1_uc001zzd.3_Silent_p.L191L|CYP19A1_uc010bey.1_Silent_p.L191L	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	191					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACACGACGCAGAAGGGTCAAC	0.488000														55			47		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723533	198723533	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:198723533C>T	uc001gur.1	+	32	3819	c.3639_splice	c.e32+1	p.F1213_splice	PTPRC_uc001gut.1_Splice_Site_p.F1052_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1213	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCCACATTCGTAAGTATCC	0.383000														80			31		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211541730	211541730	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:211541730G>A	uc010fur.3	+	38	4375	c.4293_splice	c.e38-1	p.K1431_splice	CPS1_uc002vee.4_Splice_Site_p.K1425_splice|CPS1_uc010fus.3_Splice_Site_p.K974_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1425					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATTTTTCCAGATTGATTAGA	0.328000														67			38		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324437	79324437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79324437G>A	uc010mpk.3	-	7	2877	c.2753C>T	c.(2752-2754)tCc>tTc	p.S918F	PRUNE2_uc022bih.1_Missense_Mutation_p.S740F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	918					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGTTCCAGGAATCTACCTT	0.398000														73			167		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116436072	116436072	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116436072A>G	uc003vij.3	+	20	4254	c.4067A>G	c.(4066-4068)tAt>tGt	p.Y1356C	MET_uc010lkh.3_Missense_Mutation_p.Y1374C|MET_uc011knj.2_Missense_Mutation_p.Y926C	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1356	Interaction with MUC20.|Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACGCTACTTATGTGAACGTA	0.483000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					74			126		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291229	26291229	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26291229G>A	uc003abz.1	+	27	4900	c.4650G>A	c.(4648-4650)agG>agA	p.R1550R	MYO18B_uc003aca.1_Silent_p.R1431R|MYO18B_uc010guy.1_Silent_p.R1432R|MYO18B_uc010guz.1_Silent_p.R1430R|MYO18B_uc011aka.1_Silent_p.R704R|MYO18B_uc011akb.1_Silent_p.R1063R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1550	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGACAGCCAGGAAAGAGCTGG	0.552000														11			3		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63700038	63700038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:63700038C>T	uc001jlt.2	+	2	829	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	ARID5B_uc010qil.2_Missense_Mutation_p.H125Y	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	125					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGTGGCTTCCACGCTGGACC	0.478000														33			36		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058354	53058354	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53058354C>T	uc010epq.1	+	4	2362	c.2185C>T	c.(2185-2187)Cat>Tat	p.H729Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	729					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)		TCGTAGAATTCATAGTGGTGA	0.428000														127			102		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117250021	117250021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:117250021C>T	uc003pxm.3	+	17	2561	c.2498C>T	c.(2497-2499)cCc>cTc	p.P833L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	833					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCACTGCCCCCCTACAGTGAC	0.463000														9			76		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141889002	141889002	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:141889002C>T	uc003iio.1	-	1	1164	c.510G>A	c.(508-510)atG>atA	p.M170I	RNF150_uc010iok.1_Missense_Mutation_p.M170I|RNF150_uc003iip.1_Missense_Mutation_p.M170I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	170	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCTCAGGAATCATTATGGCCA	0.478000														49			42		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48575961	48575961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:48575961G>A	uc003ctv.3	-	6	619	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PFKFB4_uc003ctx.3_Missense_Mutation_p.S158F|PFKFB4_uc010hkb.3_Missense_Mutation_p.S201F|PFKFB4_uc003ctw.3_Missense_Mutation_p.S10F|PFKFB4_uc010hkc.3_Missense_Mutation_p.S201F|PFKFB4_uc011bbm.2_Missense_Mutation_p.S190F|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	201	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CGACTCGTAGGAGTTCTCATA	0.592000														45			43		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483112	93483112	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:93483112G>A	uc001ybg.3	-	3	444	c.155C>T	c.(154-156)cCc>cTc	p.P52L	ITPK1_uc001ybe.2_Missense_Mutation_p.P52L|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Missense_Mutation_p.P52L	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GACGTCCAGGGGGCCCTGCTC	0.577000														48			32		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831464	61831464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61831464C>T	uc001jky.3	-	36	9513	c.9175G>A	c.(9175-9177)Gaa>Aaa	p.E3059K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3059					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						GAGGGAGATTCCTTTCCTGGG	0.463000														77			55		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:81110921G>A	uc001szg.2	+	0	214	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000														28			34		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032382	55032382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55032382G>A	uc010rid.2	+	1	137	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	1						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGAAACATGAATTCTGGAA	0.453000														134			104		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012985	32012985	+	Silent	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:32012985C>G	uc003nzl.2	-	31	10921	c.10719G>C	c.(10717-10719)tcG>tcC	p.S3573S	TNXB_uc003nzg.1_Silent_p.S4S|TNXB_uc003nzh.1_Silent_p.S42S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3620	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACGCTCCACGAGAGGCGCA	0.652000														37			12		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46708370	46708370	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:46708370G>A	uc001vaz.4	-	13	1644	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	LCP1_uc010ack.3_Silent_p.I75I|LCP1_uc001vay.4_Silent_p.I103I|LCP1_uc001vba.4_Silent_p.I506I	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	506	Actin-binding 2.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTTCTTCGAGGATATTCAGTG	0.343000			T	BCL6	NHL									27			33		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606311	139606311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139606311G>A	uc003yvd.3	-	62	5011	c.4564C>T	c.(4564-4566)Cgt>Tgt	p.R1522C	COL22A1_uc011ljo.2_Missense_Mutation_p.R802C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1522	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1522H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCCCAGGACGACCTGGCTCC	0.657000										HNSCC(7;0.00092)				66			25		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190010	124190010	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:124190010G>A	uc010sah.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	28					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)		GGAACAGGAGGAAGAGTGGCA	0.448000														7			65		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265765	265765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:265765G>A	uc021xka.1	-	3	881	c.881C>T	c.(880-882)gCc>gTc	p.A294V	ZNF732_uc011buu.1_Missense_Mutation_p.A262V	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTATGTTTGGCAACATTTGA	0.378000														3			12		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098466	144098466	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:144098466G>A	uc022aoj.1	-	3	517	c.517C>T	c.(517-519)Cta>Tta	p.L173L		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	173					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAGCGGGCTAGAGTTCTGTCT	0.627000														34			11		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75827197	75827197	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:75827197T>G	uc021zbv.1	-	45	7455	c.7420A>C	c.(7420-7422)Aaa>Caa	p.K2474Q	COL12A1_uc021zbw.1_Missense_Mutation_p.K1310Q|COL12A1_uc003phs.3_Missense_Mutation_p.K2474Q|COL12A1_uc003pht.3_Missense_Mutation_p.K1310Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2474	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCACTTGGTTTGCTGGCAATG	0.413000														7			51		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100217929	100217929	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:100217929C>A	uc002taf.3	-	12	1558	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	AFF3_uc002tag.3_Missense_Mutation_p.G447C|AFF3_uc010fiq.1_Missense_Mutation_p.G447C|AFF3_uc010yvr.1_Missense_Mutation_p.G600C|AFF3_uc002tah.1_Missense_Mutation_p.G472C	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	447					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCTTGCTGCCCTCACTCTCG	0.647000														9			19		1.10923e-09	1.11625e-09	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29192813	29192813	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:29192813A>C	uc002hfs.1	+	10	3571	c.3228A>C	c.(3226-3228)ttA>ttC	p.L1076F	ATAD5_uc002hft.1_Missense_Mutation_p.L973F	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1076					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAAAAAAGTTACATAGGTTGG	0.313000														32			17		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929535	121929535	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:121929535G>A	uc004bkc.2	-	7	2569	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	705					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						GGGGCCAGGCGATTAATTCGG	0.557000														105			61		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219619	79219619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:79219619C>T	uc002jzz.1	-	15	3472	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	SLC38A10_uc002jzy.1_Missense_Mutation_p.D951N|SLC38A10_uc021uey.1_Missense_Mutation_p.D108N	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	1033					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)			TTGGCATTGTCCGGCCTCTGG	0.706000														15			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107179109	107179109	+	RNA	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:107179109A>C	uc021ser.1	-	37		c.2229T>G								Parts of antibodies, mostly variable regions.																		AGACTCCCTCAAGGTGACCTG	0.507000														21			15		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:125805533C>T	uc001lhn.3	-	1	930	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_uc001lhm.3_Missense_Mutation_p.E66K|CHST15_uc010que.2_Missense_Mutation_p.E66K|CHST15_uc001lho.3_Missense_Mutation_p.E66K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000														33			54		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135383107	135383107	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:135383107C>T	uc003lbf.4	+	5	930	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_Missense_Mutation_p.R83W|TGFBI_uc011cyb.2_Missense_Mutation_p.R83W	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	257	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGACCCTTCGGGTAAGGGA	0.567000														166			141		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091441	9091441	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9091441C>T	uc002mkp.3	-	0	578	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	125	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						GGAACTCAATCCTGAAACCAT	0.502000														82			47		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43892244	43892244	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:43892244G>A	uc001zsf.3	-	27	5231	c.5153C>T	c.(5152-5154)cCt>cTt	p.P1718L	STRC_uc010bdl.3_Missense_Mutation_p.P945L|STRC_uc001zse.3_Missense_Mutation_p.P236L	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1718					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CATTTGCTCAGGAGTGACAGC	0.552000														4			38		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046383	69046383	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:69046383C>T	uc010fdg.3	+	8	1551	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	ARHGAP25_uc010yql.2_Nonsense_Mutation_p.R338*|ARHGAP25_uc002sev.3_Nonsense_Mutation_p.R371*|ARHGAP25_uc002sew.3_Nonsense_Mutation_p.R370*|ARHGAP25_uc002sex.3_Nonsense_Mutation_p.R371*	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCAGTGGCCCGAAGCTCTGT	0.517000														86			57		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121546	86121546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:86121546C>T	uc003ycz.4	+	5	822	c.785C>T	c.(784-786)cCa>cTa	p.P262L	E2F5_uc003yda.4_Missense_Mutation_p.P262L|E2F5_uc010mab.3_Missense_Mutation_p.P101L	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	262					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						CCAGTGACTCCACAGAAATCC	0.483000														30			83		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587496	70587496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:70587496G>A	uc001dep.3	+	24	4570	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	LRRC7_uc009wbg.3_Missense_Mutation_p.E798K|LRRC7_uc001deq.3_Missense_Mutation_p.E708K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1514	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATGGAACATGAAAAAGCTGT	0.318000														54			44		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530894	42530894	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:42530894G>A	uc010dni.3	+	3	1885	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	530						nucleus	DNA binding	p.R530Q(1)|p.R476Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTGCAAAACGAAGGTGGACT	0.527000									Schinzel-Giedion syndrome					80			46		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728536	51728536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51728536G>A	uc002pwa.2	+	1	140	c.100G>A	c.(100-102)Ggt>Agt	p.G34S	CD33_uc010eos.1_Missense_Mutation_p.G34S|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	34	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTACAGGAGGGTTTGTGCGT	0.567000														46			32		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605541	47605541	+	Silent	SNP	G	A	A	rs140770758		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:47605541G>A	uc003gxm.3	-	19	2778	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	CORIN_uc011bzf.2_Silent_p.I756I|CORIN_uc011bzg.2_Silent_p.I828I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	895	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCAGCTCAACGATGCTGATGT	0.532000														58			52		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403676	47403676	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47403676C>T	uc001cqp.4	-	1	380	c.329G>A	c.(328-330)gGg>gAg	p.G110E	CYP4A11_uc001cqq.2_Missense_Mutation_p.G110E|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	110					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)	ACCTGATCTCCCCAGAATCAC	0.502000														83			62		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062960	76062960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:76062960C>T	uc003ufd.4	+	3	719	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	ZP3_uc003ufc.4_Missense_Mutation_p.H186Y|ZP3_uc003ufe.3_Missense_Mutation_p.H145Y	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	237	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CGTGGACTTCCATGGGTGAGC	0.557000														130			61		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219618964	219618964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:219618964C>T	uc002viy.3	+	19	3822	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	TTLL4_uc010zkl.1_Missense_Mutation_p.P954S|TTLL4_uc010fvx.3_Missense_Mutation_p.S1087F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1151					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAACCCAGTTCCTCAAAGGAC	0.527000														68			98		0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679133	150679133	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:150679133C>T	uc001evk.2	-	9	818	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	HORMAD1_uc001evl.2_Missense_Mutation_p.E227K|HORMAD1_uc001evm.2_Missense_Mutation_p.E154K	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	234					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATATTTTCCATTCGTTCT	0.343000														106			41		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32191996	32191996	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:32191996C>T	uc010vfv.1	-	5		c.852G>A								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TGCTGGTGCCCTGGGCAGAAC	0.527000														8			3		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131955676	131955676	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:131955676T>C	uc003ytd.4	-	3	1530	c.1274A>G	c.(1273-1275)aAc>aGc	p.N425S	ADCY8_uc010mds.3_Missense_Mutation_p.N425S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	425					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)			CGTGGAGAGGTTGGTAAATCC	0.448000										HNSCC(32;0.087)				25			71		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:66678171G>A	uc002lkk.2	+	9	1487	c.1264_splice	c.e9-1	p.E422_splice	CCDC102B_uc002lki.2_Splice_Site_p.E422_splice	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000														11			6		0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970638	40970638	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:40970638C>T	uc002ibo.3	-	5	547	c.412G>A	c.(412-414)Gag>Aag	p.E138K	BECN1_uc010whb.1_Missense_Mutation_p.E51K|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.E138K	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	138					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GTGCATTCCTCACAGAGTGGG	0.532000														48			34		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826719	143826719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143826719G>A	uc011kua.2	+	0	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CGGGCCTCATGAAATCAACCA	0.547000														425			84		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151129262C>T	uc003eyp.3	+	38	6131	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2001	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S2001S(1)		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)			CAGCAGGCCTCGCCGTACCTG	0.517000														88			50		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10941040	10941040	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10941040C>T	uc002mpt.2	+	19	2719	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.P843P|DNM2_uc010dxl.2_Silent_p.P843P|DNM2_uc002mpu.2_Silent_p.P839P|DNM2_uc002mpv.2_Silent_p.P839P|DNM2_uc002mpw.3_Silent_p.P572P|DNM2_uc002mpx.1_Silent_p.P199P	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	843	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGGGATTCCCCCAGGAGTGC	0.652000			"""F, N, Splice, Mis, O"""		ETP ALL									56			38		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968505	89968505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:89968505G>A	uc003kju.3	+	21	4991	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1632	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		AATGCCAGTGGAACTATTACA	0.403000														87			56		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527745	3527745	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3527745C>T	uc010dtk.2	+	5	621	c.587C>T	c.(586-588)tCg>tTg	p.S196L	FZR1_uc002lxt.2_Missense_Mutation_p.S196L|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	196					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGACTGGTCGTCCCTCAAT	0.627000														42			53		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399212	22399212	+	Missense_Mutation	SNP	G	A	A	rs138159912		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:22399212G>A	uc001mqk.3	+	11	2088	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	559					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTGGTTGGGAAAAGAAAGA	0.368000														18			18		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408894	82408894	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:82408894G>A	uc001dit.4	+	5	820	c.639G>A	c.(637-639)gtG>gtA	p.V213V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V213V|LPHN2_uc001div.3_Silent_p.V213V|LPHN2_uc009wcd.3_Silent_p.V213V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	213	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGGATTTGTGGTGTATGATG	0.353000														35			26		0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30124621	30124621	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30124621G>A	uc003agl.3	+	2	326	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	86	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TCCACCAGGTGATGGTCAAGT	0.572000														28			27		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874099	48874099	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:48874099T>C	uc002rwp.2	+	7	3122	c.3008T>C	c.(3007-3009)cTt>cCt	p.L1003P	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.L1003P|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.L956P|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.L299P|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.L265P	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	956					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCATATTCTTAAAAATAGG	0.438000														18			22		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115767075	115767075	+	Silent	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:115767075C>G	uc003ibu.3	-	9	2698	c.2019G>C	c.(2017-2019)tcG>tcC	p.S673S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	673	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S673S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAGCTTCTTCCGAATGGAAGT	0.448000														39			36		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22475237	22475237	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:22475237C>T	uc003xch.3	+	15	2268	c.2019C>T	c.(2017-2019)gtC>gtT	p.V673V	KIAA1967_uc003xci.3_Silent_p.V673V|KIAA1967_uc003xcj.1_Silent_p.V342V	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	673					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATTCGGAGGTCCGGTCCGTTG	0.532000														111			89		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020414	69020414	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:69020414A>G	uc003xxv.1	+	23	2813	c.2786A>G	c.(2785-2787)cAc>cGc	p.H929R	PREX2_uc011lez.1_Missense_Mutation_p.H864R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	929					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						TCCCCACTGCACAGCAGTGAT	0.413000														70			14		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715227	92715227	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92715227G>A	uc001pdk.1	+	1	941	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	280					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.E280K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAACCCCCAAGAAATGGCTCC	0.507000														114			72		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456081	5456081	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:5456081C>T	uc002mca.4	+	0	656	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	193	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCGACGACCTCGTGAGCATGA	0.657000														93			90		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35921605	35921605	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:35921605T>A	uc002hoa.3	-	11	1651	c.1568A>T	c.(1567-1569)gAc>gTc	p.D523V	SYNRG_uc010wde.2_Missense_Mutation_p.D445V|SYNRG_uc010wdf.2_Missense_Mutation_p.D445V|SYNRG_uc002hoc.3_Missense_Mutation_p.D444V|SYNRG_uc002hoe.3_Missense_Mutation_p.D445V|SYNRG_uc002hod.3_Missense_Mutation_p.D445V|SYNRG_uc010wdg.2_Missense_Mutation_p.D362V|SYNRG_uc002hob.3_Missense_Mutation_p.D523V|SYNRG_uc002hof.3_Missense_Mutation_p.D235V|SYNRG_uc010cvd.1_Missense_Mutation_p.D323V	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	523	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAGGACTTGTCAGCTGCAAT	0.358000														48			39		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22989009	22989009	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:22989009G>A	uc001wfq.2	+	1	62	c.-152_splice	c.e1+1		TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfo.2_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc021rqk.1_Splice_Site|TCRA_uc001wfr.1_5'Flank|TCRA_uc010ajz.1_5'Flank|TCRA_uc021rql.1_5'Flank|TCRA_uc001wfs.2_5'Flank					RecName: Full=T-cell receptor alpha chain C region;																		GGTCACCCCAGGTAAGCCCCA	0.512000														5			11		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111666390	111666390	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:111666390C>T	uc010yxk.1	+	10	1037	c.813C>T	c.(811-813)acC>acT	p.T271T	ACOXL_uc021vmm.1_Silent_p.T94T|ACOXL_uc021vmn.1_Silent_p.T94T	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	271					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGCCCAAAACCAAGGAAGAGG	0.527000														72			48		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691231	153691231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:153691231G>A	uc003imy.3	-	1	1747	c.926C>T	c.(925-927)tCa>tTa	p.S309L	TIGD4_uc021xtf.1_Missense_Mutation_p.S309L	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	309	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343000														52			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264224	140264224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140264224G>A	uc003lif.2	+	0	2371	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E791K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E791K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	838					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)			CCAGAGGGAGGAGGACTCAGA	0.483000														25			10		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316063	125316063	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125316063C>T	uc011lyx.2	+	0	615	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	205					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						TGAAGCTTGCCTGCTCAGATA	0.522000														216			95		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149512350	149512350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:149512350C>T	uc003lro.3	-	6	1559	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	PDGFRB_uc010jhd.3_Missense_Mutation_p.E203K|PDGFRB_uc011dcg.1_3'UTR	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	364	Ig-like C2-type 4.				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 DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|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)	AGGGCGATTTCGCCAGCGCTG	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									9			16		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465995	160465995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:160465995G>A	uc001fwe.2	-	1	308	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.P80S|SLAMF6_uc010pjh.2_Missense_Mutation_p.P31S|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.P31S	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	80						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CCCTGTTTCGGATTAGTCACG	0.468000														36			64		0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305503	39305503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39305503G>A	uc002hwb.3	-	0	552	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	178						keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCACAAGGGGCGGGGGCAG	0.547000														12			14		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647556	19647556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:19647556C>T	uc002ykw.3	-	23	2893	c.2862G>A	c.(2860-2862)atG>atA	p.M954I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	954	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGCACATATCATATTTTCAG	0.373000														85			59		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398861	196398861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196398861C>T	uc001gtd.1	-	8	725	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R222Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R222Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.R222Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R197Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	222						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						CTTTCCTATTCGTTCCAGATG	0.378000														18			21		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34765945	34765945	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:34765945C>T	uc002xfb.3	+	3	585	c.414C>T	c.(412-414)ttC>ttT	p.F138F	EPB41L1_uc002xeu.3_Silent_p.F76F|EPB41L1_uc010zvo.1_Silent_p.F138F|EPB41L1_uc002xev.3_Silent_p.F138F|EPB41L1_uc002xew.3_Intron|EPB41L1_uc002xex.3_Silent_p.F107F|EPB41L1_uc002xey.3_Silent_p.F138F|EPB41L1_uc002xez.3_Silent_p.F76F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	138	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.F138F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGACTACTTCGGCCTGACCT	0.582000														33			40		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64518882	64518882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:64518882G>A	uc003dmg.3	-	37	5710	c.5678C>T	c.(5677-5679)tCa>tTa	p.S1893L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.S1865L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.S804L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1893	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATTCCCTTGTGATATCCATCT	0.413000														53			40		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212584	1212584	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:1212584C>T	uc003jbw.4	+	3	704	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	216					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGCGGCATCGAGACCACCG	0.672000														81			65		0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134696215	134696215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:134696215G>A	uc003lam.1	-	4	770	c.560C>T	c.(559-561)tCc>tTc	p.S187F	H2AFY_uc003lao.1_Missense_Mutation_p.S186F|H2AFY_uc003lan.1_Missense_Mutation_p.S187F|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.S187F|H2AFY_uc003lat.1_Missense_Mutation_p.S186F	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	187	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCTTGGTGGAGAGGACTGT	0.617000														53			30		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923448	117923448	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117923448G>A	uc001two.2	-	14	2236	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	756	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCCAAAACGATTTTGGCAT	0.453000														45			33		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159935	132159935	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:132159935C>T	uc003kxx.3	-	6	2223	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	SHROOM1_uc003kxy.2_Missense_Mutation_p.G473E	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	473					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGCAGTCCCAGTGGGGGT	0.567000														62			54		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24037192	24037192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24037192G>A	uc002zxo.3	+	5	2329	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Non-coding_Transcript|GUSBP11_uc002zxm.3_Non-coding_Transcript|RGL4_uc002zxn.3_Missense_Mutation_p.D358N|RGL4_uc002zxp.1_Missense_Mutation_p.D222N|RGL4_uc002zxq.3_Missense_Mutation_p.D222N			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	358	Ras-GEF.		D -> V (in dbSNP:rs8137247).		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						AGTGAAGAGGGACCTACTGAT	0.463000														39			25		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18330078	18330078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18330078C>T	uc010xqc.2	-	7	1412	c.932G>A	c.(931-933)gGg>gAg	p.G311E	PDE4C_uc002nik.4_Missense_Mutation_p.G311E|PDE4C_uc002nil.4_Missense_Mutation_p.G311E|PDE4C_uc002nig.4_Missense_Mutation_p.G81E|PDE4C_uc002nih.4_Missense_Mutation_p.G81E|PDE4C_uc010ebk.3_Missense_Mutation_p.G205E|PDE4C_uc002nii.4_Missense_Mutation_p.G279E|PDE4C_uc002nif.4_Missense_Mutation_p.G80E|PDE4C_uc010ebl.3_Missense_Mutation_p.G25E	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	311					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTCTGGACCCCAAAGCGTGG	0.617000														37			43		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266817	48266817	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:48266817C>T	uc001ngs.1	+	0	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	54					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						TGTACTTCTTCCTCAGCTACC	0.488000														50			55		0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93620384	93620384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:93620384C>T	uc001dpn.3	-	3	980	c.533G>A	c.(532-534)aGa>aAa	p.R178K	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_Silent_p.*194*	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	178					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TTCAAATGCTCTAAGCAGAGT	0.373000														109			86		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957588	50957588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:50957588G>A	uc002psf.2	+	17	2027	c.1976G>A	c.(1975-1977)tGg>tAg	p.W659*		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	659	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATCCTTGTCTGGGAGCCACCA	0.587000														60			37		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89520454	89520454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89520454C>T	uc001dmx.2	-	9	1796	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	526					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCAAGTGTTCCTGATAACTC	0.448000														299			209		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894516	71894516	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:71894516G>A	uc010fen.3	+	47	5469	c.5328G>A	c.(5326-5328)agG>agA	p.R1776R	DYSF_uc010fei.3_Silent_p.R1754R|DYSF_uc010feh.3_Silent_p.R1744R|DYSF_uc002sig.4_Silent_p.R1723R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1768R|DYSF_uc010fee.3_Silent_p.R1758R|DYSF_uc010fef.3_Silent_p.R1775R|DYSF_uc002sie.3_Silent_p.R1737R|DYSF_uc010feo.3_Silent_p.R1769R|DYSF_uc010fej.3_Silent_p.R1745R|DYSF_uc010fel.3_Silent_p.R1724R|DYSF_uc010fem.3_Silent_p.R1759R|DYSF_uc002sif.3_Silent_p.R1738R|DYSF_uc010fek.3_Silent_p.R1755R|DYSF_uc010yqy.2_Silent_p.R618R|DYSF_uc010yqz.2_Silent_p.R498R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1737						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						AGGCTGGCAGGATCCCAAACC	0.627000														96			64		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051485	38051485	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:38051485C>T	uc003gtb.3	+	10	2234	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	TBC1D1_uc011byd.2_Missense_Mutation_p.H626Y|TBC1D1_uc010ifd.3_Missense_Mutation_p.H373Y|TBC1D1_uc011byf.1_Missense_Mutation_p.H497Y	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	626						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TATGAGGTATCACTCAGTGAG	0.502000														45			56		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183212	38183212	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38183212C>T	uc002hts.3	-	15	1881	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	MED24_uc010wes.2_Missense_Mutation_p.E396K|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.E536K|MED24_uc002htu.3_Missense_Mutation_p.E523K|MED24_uc010cwn.3_Missense_Mutation_p.E523K|MED24_uc010weu.2_Missense_Mutation_p.E446K|MED24_uc010wev.1_Missense_Mutation_p.E486K|MED24_uc010wew.1_Missense_Mutation_p.E477K|MED24_uc010wex.1_Missense_Mutation_p.E241K|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	536					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATCTTGCCCTCCTCAGGCATG	0.617000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			20		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805088	43805088	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:43805088A>T	uc001ciw.3	+	3	583	c.538A>T	c.(538-540)Act>Tct	p.T180S	MPL_uc001civ.3_Missense_Mutation_p.T180S|MPL_uc009vwr.3_Missense_Mutation_p.T173S	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	180	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGAACTCCACTGGTCCCAC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							51			66		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945102	151945102	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:151945102G>A	uc003wla.3	-	13	2636	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	806					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S806S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCCAGCAGAGGAACTAAGAGC	0.438000			N		medulloblastoma									717			30		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97969611	97969611	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:97969611G>A	uc001kls.4	-	8	907	c.729C>T	c.(727-729)tcC>tcT	p.S243S	BLNK_uc001kme.4_Silent_p.S138S|BLNK_uc001klt.4_Silent_p.S134S|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Silent_p.S161S|BLNK_uc001klv.4_Silent_p.S138S|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Silent_p.S220S|BLNK_uc001kly.4_Silent_p.S243S|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.S220S|BLNK_uc001kmb.4_Silent_p.S39S|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Silent_p.S161S|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	243	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S243C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTGGCAACGGGGATGGTGCAG	0.567000														145			110		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078752	10078752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10078752G>A	uc002mmq.1	-	59	4404	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1440	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)			GGACCAGGGGGACCCTAGGAA	0.587000														24			19		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996304	140996304	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:140996304G>A	uc004fbt.3	+	3	3438	c.3114G>A	c.(3112-3114)ggG>ggA	p.G1038G	MAGEC1_uc010nsl.2_Silent_p.G105G|MAGEC1_uc022cfi.1_Silent_p.G697G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1038	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTTTGGGGAGCCCAGGG	0.547000										HNSCC(15;0.026)				2			46		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149541	41149541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41149541C>T	uc003jmk.2	-	16	2635	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N	C6_uc003jml.1_Missense_Mutation_p.D809N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	809	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTAAAGTAATCGTTGGAGTCT	0.423000														105			95		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80756922	80756922	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:80756922C>T	uc003khp.3	-	10	874	c.663_splice	c.e10-1	p.M221_splice	SSBP2_uc003khn.3_Splice_Site_p.M87_splice|SSBP2_uc011ctr.2_Splice_Site_p.M183_splice|SSBP2_uc003kho.3_Splice_Site_p.M213_splice|SSBP2_uc011ctp.2_Splice_Site_p.M193_splice|SSBP2_uc011ctq.2_Splice_Site_p.M191_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	213	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CACCTGGACCCCTACAAAACA	0.279000														12			6		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60892552	60892552	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:60892552A>G	uc009ynk.3	+	8	1431	c.1328A>G	c.(1327-1329)aAc>aGc	p.N443S		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	443					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CATGCTGAGAACCCCACAGCC	0.587000														58			33		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886371	29886371	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:29886371G>A	uc003afo.3	+	3	2813	c.2742G>A	c.(2740-2742)gtG>gtA	p.V914V	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	920	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTGCCAAGGTGGAGGTGAAGG	0.498000														5			8		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031542	56031542	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:56031542C>T	uc010spq.2	+	0	867	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAACCCCATCATCTACACCC	0.592000														36			22		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19393350	19393350	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:19393350T>C	uc002zpf.1	-	4	576	c.356A>G	c.(355-357)gAg>gGg	p.E119G	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.E119G|HIRA_uc010gro.2_Missense_Mutation_p.E75G|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	119					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCGCCACTGCTCCACATTGGC	0.602000														59			58		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:25708206G>A	uc003xes.2	-	14	1865	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000														51			31		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768474	38768474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38768474C>T	uc003ciq.3	-	15	2710	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	904					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCTCCCCATCGTCCTCCGGG	0.547000														128			109		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493174	130493174	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:130493174G>A	uc004brq.1	+	13	2179	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K	TTC16_uc011mai.1_Silent_p.K691K|TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Silent_p.K300K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	704							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTATACACAAGAGGAACTCCA	0.612000														55			23		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433570	69433570	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:69433570C>T	uc021xov.1	-	0	676	c.633G>A	c.(631-633)agG>agA	p.R211R		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	211					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TATTTTTTATCCTCTCCATGA	0.353000														33			41		0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415080	128415080	+	Missense_Mutation	SNP	G	A	A	rs138668344		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:128415080G>A	uc002tpa.3	-	1	234	c.68C>T	c.(67-69)tCc>tTc	p.S23F	LIMS2_uc002tox.3_Missense_Mutation_p.S47F|LIMS2_uc010fmb.3_5'UTR|LIMS2_uc002toy.3_Missense_Mutation_p.S18F|LIMS2_uc002toz.3_Missense_Mutation_p.S18F|LIMS2_uc010yzm.2_Missense_Mutation_p.S45F|LIMS2_uc002tpb.3_Missense_Mutation_p.S18F	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	23	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTCGGCGGGGGAGAAGCGGGC	0.642000														98			67		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601065	48601065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48601065G>A	uc010wmr.2	+	11	1846	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	525					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TACTCTATTAGGAGGTGCTAT	0.483000														40			61		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360048	149360048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:149360048C>T	uc003lrh.3	+	2	1160	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	298						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGAAACATCCATAAGACCAA	0.438000														41			27		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791492	95791492	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:95791492A>T	uc001kjk.3	+	1	1323	c.689A>T	c.(688-690)tAt>tTt	p.Y230F	PLCE1_uc010qnx.2_Missense_Mutation_p.Y230F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	230					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGAAAAACTATGTGGCATAT	0.378000														13			14		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712557	12712557	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:12712557A>C	uc004cuz.2	+	8	1423	c.917A>C	c.(916-918)gAg>gCg	p.E306A	FRMPD4_uc011mij.2_Missense_Mutation_p.E298A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	306	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.E306G(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTTGCTTTCGAGTATCTCTAT	0.383000														4			23		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53001989	53001989	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53001989G>A	uc001sas.3	-	8	1649	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTTATCTCATGGTTTTTTTGG	0.532000														113			74		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155749975	155749975	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:155749975G>A	uc003qqm.3	-	8	1201	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	366	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGCCCCAAAGGCCTCCAGTA	0.562000														3			31		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986344	51986344	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51986344C>T	uc002pwv.1	+	4	930	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	310	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATCGGCTCCCAAGTGGAAA	0.517000														158			132		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	31001613	31001613	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:31001613G>A	uc010qdx.1	+	9	1596	c.1054_splice	c.e9+1							SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CACAGAGATGGTGAGCACGCT	0.498000														24			23		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:1842969C>T	uc002qxe.3	-	20	3859	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	MYT1L_uc002qxd.3_Missense_Mutation_p.G1009E|MYT1L_uc010ewk.3_Missense_Mutation_p.G7E	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1011					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667000														53			27		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511937	6511937	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6511937C>T	uc001amy.3	+	9	2274	c.2106C>T	c.(2104-2106)gtC>gtT	p.V702V	ESPN_uc001amz.3_Silent_p.V136V	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	702	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGTCACCAGTCCGGAGCCCCA	0.692000														19			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110495297	110495297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:110495297C>T	uc003yne.3	+	56	9643	c.9539C>T	c.(9538-9540)tCc>tTc	p.S3180F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3180					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)			TTTGCAGGTTCCAAAGTCCTG	0.388000										HNSCC(38;0.096)				48			27		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136748	40136748	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40136748G>A	uc021qgf.1	-	0	1095	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	LRRC4C_uc001mxc.1_Silent_p.V361V|LRRC4C_uc001mxd.1_Silent_p.V361V|LRRC4C_uc001mxa.1_Silent_p.V365V|LRRC4C_uc001mxb.1_Silent_p.V361V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	365	Ig-like C2-type.				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)				TGCCTTCAGTGACATTGAGGT	0.517000														48			35		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505082	70505082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:70505082C>T	uc011caq.2	-	2	996	c.880G>A	c.(880-882)Gat>Aat	p.D294N	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.D93N|UGT2A1_uc021xox.1_Missense_Mutation_p.D93N|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	84					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTAAGGAATCTATATTGCTC	0.393000														36			36		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220970084	220970084	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:220970084C>T	uc001hmt.3	+	2	797	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MARC1_uc001hms.3_Silent_p.F183F	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	183							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGGTGCACTTCGAGCCTCACA	0.592000														42			14		0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112238021	112238021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:112238021C>T	uc001ebi.3	+	2	220	c.116C>T	c.(115-117)tCc>tTc	p.S39F	RAP1A_uc001ebk.3_Missense_Mutation_p.S39F|RAP1A_uc001ebl.3_Missense_Mutation_p.S39F	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	39					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ATAGAAGATTCCTACAGAAAG	0.294000														22			15		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828173	6828173	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:6828173C>T	uc002mfu.1	+	9	1111	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	VAV1_uc010xjh.1_Silent_p.L306L|VAV1_uc010dva.1_Silent_p.L338L|VAV1_uc002mfv.1_Silent_p.L283L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	338	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AATATCACCTCCTTCTCCAGG	0.572000														44			28		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583609	10583609	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:10583609G>C	uc011kwz.2	-	5	995	c.962C>G	c.(961-963)tCc>tGc	p.S321C	SOX7_uc003wtf.3_Missense_Mutation_p.S269C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	269	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.Q320L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGACATCATGGAGACGCCGGG	0.677000														28			20		0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107361380	107361380	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:107361380T>C	uc011eaj.2	+	2	1106	c.431T>C	c.(430-432)gTt>gCt	p.V144A	C6orf203_uc003prq.3_Missense_Mutation_p.V139A|C6orf203_uc010kde.3_Missense_Mutation_p.V139A	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	139								p.R143W(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GAAAAAGCAGTTCAGTCTTTT	0.413000														3			47		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946709	6946709	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6946709C>T	uc001qra.1	+	11	1714	c.1680C>T	c.(1678-1680)acC>acT	p.T560T	GPR162_uc001qrb.1_Silent_p.T368T	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGTCCTTCACCCACCTGGTGT	0.657000														17			14		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848968	61848968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:61848968C>T	uc010oos.2	+	7	1223	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	NFIA_uc001czy.3_Missense_Mutation_p.P328S|NFIA_uc001czw.3_Missense_Mutation_p.P336S|NFIA_uc001czv.3_Missense_Mutation_p.P336S	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	336					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G380W(1)|p.G380V(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CAGCCCCTCCCCTTCACAGAC	0.537000														169			116		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140053886	140053886	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140053886C>A	uc003lgv.3	-	12	1568	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_Nonsense_Mutation_p.E427*|HARS_uc011czm.2_Nonsense_Mutation_p.E456*|HARS_uc003lgw.3_Nonsense_Mutation_p.E476*|HARS_uc011czn.2_Nonsense_Mutation_p.E436*|HARS_uc011czo.2_Nonsense_Mutation_p.E422*|HARS_uc011czp.2_Nonsense_Mutation_p.E382*	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	496					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTGATTTCCTCCACAAGGTCT	0.502000														50			31		8.16277e-20	8.25361e-20	1	1	0
ANO2	57101	broad.mit.edu	37	12	5915236	5915236	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:5915236G>A	uc001qnm.2	-	8	1032	c.960C>T	c.(958-960)gaC>gaT	p.D320D		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	325						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATTCATATCGTCCTCTGGAC	0.478000														27			28		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52264891	52264891	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:52264891G>A	uc003ddd.3	-	5	755	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	TLR9_uc003ddb.3_Nonsense_Mutation_p.Q6*|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCCACCATCTGGATGTAGTTG	0.617000														13			11		0	0	1	0	0
Y00482	0	broad.mit.edu	37	7	38389397	38389397	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:38389397G>A	uc022aca.1	-	0	208	c.29C>T	c.(28-30)gCt>gTt	p.A10V	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		AGACAGGAAAGCTAGAAGCAC	0.522000														54			18		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442021	145442021	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:145442021C>T	uc003lnt.3	+	9	2185	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SH3RF2_uc011dbl.1_Silent_p.S649S|SH3RF2_uc003lnu.3_Silent_p.S140S|SH3RF2_uc011dbn.1_Silent_p.S140S|SH3RF2_uc011dbo.2_Silent_p.S106S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	649							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.Y648Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAATTACAGCCCTCCTCCCA	0.552000														82			60		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751235	26751235	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:26751235G>A	uc003cdp.3	+	1	661	c.72G>A	c.(70-72)atG>atA	p.M24I	LRRC3B_uc003cdq.3_Missense_Mutation_p.M24I|LRRC3B_uc021wuj.1_Missense_Mutation_p.M24I	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	24						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTGTTCTTATGATACTGTGCT	0.453000														63			42		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:26243817G>A	uc001isn.2	+	3	543	c.183G>A	c.(181-183)gaG>gaA	p.E61E	MYO3A_uc009xko.1_Silent_p.E61E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.E61E|MYO3A_uc001ism.2_Silent_p.E61E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323000														47			38		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93510677	93510677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:93510677C>T	uc002bsp.3	+	16	2698	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	CHD2_uc002bso.1_Missense_Mutation_p.S708F	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	708					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTGGAGAAATCCCTTCCTGCT	0.463000														64			48		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27335337	27335337	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27335337G>A	uc009xku.1	-	17	2102	c.1930C>T	c.(1930-1932)Ctg>Ttg	p.L644L	ANKRD26_uc001itg.2_Silent_p.L330L|ANKRD26_uc001ith.2_Silent_p.L643L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	643						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTTGTAGCAGGCCACCAGTT	0.388000														42			27		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061575	6061576	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6061575_6061576GT>AG	uc001qnn.1	-	48	8346_8347	c.8096_8097AC>CT	c.(8095-8097)cac>cCT	p.H2699P	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2699					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAGACACTTGTGTTCATCAAA	0.490000														66			42		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150958816	150958816	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:150958816C>T	uc001ewa.2	+	7	947	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	159					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCAGATTTCCAGGTGGAGG	0.562000														64			35		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43602868	43602868	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:43602868G>A	uc003cmv.3	-	8	1491	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	ANO10_uc011azs.2_Silent_p.S440S|ANO10_uc003cmw.3_Silent_p.S374S|ANO10_uc010hil.3_Silent_p.S250S|ANO10_uc011azt.2_Silent_p.S329S	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	440					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGAGGATCTGGGAGGTAATTA	0.393000														20			26		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617890	35617890	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:35617890C>T	uc002nxx.2	-	6	1254	c.660G>A	c.(658-660)tcG>tcA	p.S220S	LGI4_uc002nxy.1_Silent_p.S48S|LGI4_uc002nxz.1_Silent_p.S48S	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	220						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGCTCAGTGCCGACTCCCCCA	0.632000														64			35		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172897	108172897	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:108172897C>T	uc003dxa.1	-	21	2472	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	805	IQ.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAGTTTGCCCTGTGCTCTGG	0.448000														29			23		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633708	70633708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70633708C>T	uc001xly.3	-	1	2186	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E478K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E478K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E478K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	478	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGTGTTCATCCTCCTCA	0.517000														143			120		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669900	131669900	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:131669900C>T	uc004bwl.4	+	2	711	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	LRRC8A_uc010myp.3_Silent_p.L153L|LRRC8A_uc010myq.3_Silent_p.L153L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	153					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAGCTCGAAGCTGGAGCACTT	0.597000														57			35		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534331	52534331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:52534331G>A	uc010bff.3	-	19	2632	c.2470C>T	c.(2470-2472)Cgc>Tgc	p.R824C	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	824	IQ 3.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R824H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TACAGGCTGCGAACAAGATAC	0.507000														178			130		0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122048	18122048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:18122048G>A	uc003ncl.1	-	0	804	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	264			P -> H (in EPM2).		proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ACCCCTCGGGGATTGCACAGA	0.627000														36			72		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274326	233274326	+	Missense_Mutation	SNP	G	A	A	rs137976988		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233274326G>A	uc002vss.4	+	10	1396	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	448					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCCCTGGACGGAGAGACCCAC	0.637000														17			6		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617024	1617024	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:1617024C>T	uc002wfm.1	-	2	623	c.558G>A	c.(556-558)ggG>ggA	p.G186G	SIRPG_uc002wfn.1_Silent_p.G186G|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGAGCTCATTCCCATTTTTGA	0.577000														61			49		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76457729	76457729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:76457729C>T	uc010dhp.2	-	57	9361	c.9236G>A	c.(9235-9237)aGc>aAc	p.S3079N	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGGTCTGCGCTCTCATTCTT	0.537000														8			6		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288914	114288914	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:114288914C>T	uc003ibe.4	+	41	11325	c.11225C>T	c.(11224-11226)cCc>cTc	p.P3742L	ANK2_uc003ibd.4_Missense_Mutation_p.P1648L|ANK2_uc003ibf.4_Missense_Mutation_p.P1657L|ANK2_uc011cgc.2_Missense_Mutation_p.P833L|ANK2_uc003ibg.4_Missense_Mutation_p.P641L|ANK2_uc003ibh.4_Missense_Mutation_p.P331L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3709					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)		GCACTCTTTCCCCAAACTCAC	0.468000														104			65		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	T	T	rs147148566		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:189586470C>T	uc003fry.2	+	7	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_uc003frx.2_Missense_Mutation_p.S365L|TP63_uc003frz.2_Missense_Mutation_p.S365L|TP63_uc010hzc.1_Missense_Mutation_p.S365L|TP63_uc003fsa.2_Missense_Mutation_p.S271L|TP63_uc003fsb.2_Missense_Mutation_p.S271L|TP63_uc003fsc.2_Missense_Mutation_p.S271L|TP63_uc003fsd.2_Missense_Mutation_p.S271L|TP63_uc021xir.1_Missense_Mutation_p.S271L|TP63_uc010hzd.1_Missense_Mutation_p.S186L|TP63_uc003fse.1_Missense_Mutation_p.S246L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	365	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S365L(6)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537000										HNSCC(45;0.13)				72			58		0	0	1	0	0
MIR488	574441	broad.mit.edu	37	1	176998581	176998581	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:176998581C>T	uc021pfc.1	-	1		c.1_splice	c.e1-1		ASTN1_uc001glb.1_Intron|ASTN1_uc001glc.3_Intron|ASTN1_uc001gld.1_Intron|ASTN1_uc009wwx.1_Intron|ASTN1_uc001gle.4_Intron					Homo sapiens microRNA 488 (MIR488), microRNA.																		AGATGATTCTCTGAAATTTTC	0.398000														18			3		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51196403	51196403	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:51196403G>A	uc001wyi.3	-	28	6107	c.5916C>T	c.(5914-5916)tcC>tcT	p.S1972S	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.S1972S|NIN_uc001wyk.3_Silent_p.S1259S|NIN_uc001wyo.3_Silent_p.S1972S|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1972					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAGCATGAGGGGACGGGCTAG	0.587000			T	PDGFRB	MPD									14			8		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7024006	7024006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:7024006C>T	uc009yfh.1	-	1	360	c.61G>A	c.(61-63)Gat>Aat	p.D21N	ZNF214_uc001mfa.2_Missense_Mutation_p.D21N|ZNF214_uc010ray.1_Missense_Mutation_p.D21N	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGAGAAGAATCCAGGAATTTC	0.388000														55			56		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980536	110980536	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:110980536G>A	uc003ynr.4	-	2	2088	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	KCNV1_uc010mcw.3_Silent_p.N428N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	428						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I427T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGAAGCGATCGTTAATAATAG	0.448000														33			119		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678421	48678422	+	Silent	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48678421_48678422CC>TT	uc002irk.1	+	18	4173_4174	c.3801_3802CC>TT	c.(3799-3804)ctcctg>ctTTtg	p.1267_1268LL>LL	CACNA1G_uc002iri.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irj.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irl.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irm.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irn.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002iro.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irp.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irq.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irr.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irs.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irt.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002iru.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irv.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irw.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irx.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002iry.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isg.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ish.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isi.1_Silent_p.1157_1158LL>LL|CACNA1G_uc002irz.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isa.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isd.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isb.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isc.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ise.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isf.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1267					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)	GGTTCCGCCTCCTGTGTCACCG	0.624000														185			72		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205893592	205893592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:205893592G>A	uc001hdp.3	-	12	1529	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	SLC26A9_uc001hdo.3_Missense_Mutation_p.S140F|SLC26A9_uc001hdq.3_Missense_Mutation_p.S472F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	472						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAAGAAGGAGGAGAGGAAGCT	0.522000														51			24		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128665863	128665863	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:128665863T>G	uc003ifl.3	+	1	415	c.269T>G	c.(268-270)gTt>gGt	p.V90G		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	90					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						TTGGCAAATGTTATTCGGTAT	0.313000														49			55		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600284	92600284	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92600284G>A	uc001pdj.4	+	20	12053	c.12036G>A	c.(12034-12036)acG>acA	p.T4012T	FAT3_uc001pdi.4_Silent_p.T452T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4012	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGGCCTGACGGAGCTGAAGC	0.657000										TCGA Ovarian(4;0.039)				5			6		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659623	206659623	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:206659623G>A	uc002vaw.3	+	16	3428	c.2637G>A	c.(2635-2637)ctG>ctA	p.L879L	NRP2_uc002vax.3_Silent_p.L874L|NRP2_uc002vay.3_Silent_p.L857L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	879					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCGTCCTCCTGGGGGCCACCT	0.607000														57			92		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129223186	129223186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:129223186C>T	uc003eml.3	+	21	2931	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S	IFT122_uc003emm.3_Missense_Mutation_p.P858S|IFT122_uc003emn.3_Missense_Mutation_p.P799S|IFT122_uc003emo.3_Missense_Mutation_p.P747S|IFT122_uc003emp.3_Missense_Mutation_p.P708S|IFT122_uc010htc.3_Missense_Mutation_p.P850S|IFT122_uc011bky.2_Missense_Mutation_p.P649S|IFT122_uc011bla.2_Missense_Mutation_p.P631S|IFT122_uc003emr.3_Missense_Mutation_p.P610S|IFT122_uc010hte.3_Missense_Mutation_p.P184S|IFT122_uc003ems.3_Missense_Mutation_p.P239S|IFT122_uc011bkx.1_Missense_Mutation_p.P698S|IFT122_uc010htd.1_Missense_Mutation_p.P337S	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	858					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAGAAGCATCCTGAGTTTAA	0.502000														59			46		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447651	96447651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96447651G>A	uc001kjv.4	+	1	619	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CYP2C19_uc001kjw.4_Missense_Mutation_p.G98E|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	98					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCTGGAAGAGGAAGTTTTCCA	0.443000														87			68		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111542364	111542364	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:111542364C>T	uc003iaf.3	-	5	2169	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	PITX2_uc003iac.3_Missense_Mutation_p.E123K|PITX2_uc003iad.3_Missense_Mutation_p.E116K|PITX2_uc021xqr.1_Missense_Mutation_p.E116K|PITX2_uc003iae.3_Missense_Mutation_p.E70K|PITX2_uc021xqs.1_Missense_Mutation_p.E70K|PITX2_uc003iag.1_Missense_Mutation_p.E123K	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	116					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGATTTCTTCGCGTGTGGAC	0.617000														20			18		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450620	41450620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:41450620C>T	uc002yyq.1	-	25	5157	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1569					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1569N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTACTGCCATCGTAGTTCAGC	0.582000														43			30		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210406	228210406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228210406C>T	uc001hrp.2	+	1	217	c.110C>T	c.(109-111)tCg>tTg	p.S37L	WNT3A_uc001hrq.2_Missense_Mutation_p.S37L	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	37					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TCCCTGGGCTCGCAGCCCATC	0.647000														49			71		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14176301	14176301	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:14176301C>T	uc003byk.2	+	7	869	c.615C>T	c.(613-615)tcC>tcT	p.S205S	TMEM43_uc003byl.1_Silent_p.S85S	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	205						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTTCAAGTCCCTGAGCCTAT	0.537000														36			26		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:20563565C>T	uc002dhj.4	-	6	1005	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.W265*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.W265*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G264V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000														105			74		0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29533401	29533401	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:29533401C>T	uc001brq.1	-	3	459	c.423G>A	c.(421-423)gaG>gaA	p.E141E	MECR_uc001brp.1_Silent_p.E65E|MECR_uc001brt.1_Silent_p.E65E|MECR_uc010ofz.1_Silent_p.E141E	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	141					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGAACACAGCCTCGGTCCGCC	0.567000														37			38		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032653	30032654	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:30032653_30032654GG>AA	uc003cel.3	+	13	1630_1631	c.1260_1261GG>AA	c.(1258-1263)gtggac>gtAAac	p.D421N	RBMS3_uc010hfq.3_Missense_Mutation_p.D418N|RBMS3_uc003cek.3_Missense_Mutation_p.D405N|RBMS3_uc010hfr.3_Missense_Mutation_p.D405N|RBMS3_uc003cem.3_Missense_Mutation_p.D403N	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	421						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AGATAGCAGTGGACACATCCAA	0.485000														62			47		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975454	24975454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24975454C>T	uc001wpp.1	-	3	410	c.380G>A	c.(379-381)gGg>gAg	p.G127E	CMA1_uc010alx.1_Missense_Mutation_p.G16E	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	127	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGGGAGTGTCCCCACAGCCAG	0.572000														46			40		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974403	49974404	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:49974403_49974404GG>AA	uc010rhz.2	+	0	461_462	c.429_430GG>AA	c.(427-432)gtggga>gtAAga	p.G144R		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTGCTAGTGGGAGTGTCATG	0.455000														36			26		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765504	66765504	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:66765504G>A	uc001stk.3	-	21	3067	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	GRIP1_uc010sta.1_Silent_p.I886I|GRIP1_uc001stj.3_Silent_p.I709I|GRIP1_uc001stm.3_Silent_p.I927I|GRIP1_uc001stl.1_Silent_p.I819I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	994					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGAGACATGATCTCCTTTA	0.483000														74			58		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979560	55979560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:55979560C>T	uc003has.3	-	6	1189	c.887G>A	c.(886-888)gGt>gAt	p.G296D	KDR_uc003hat.1_Missense_Mutation_p.G296D|KDR_uc011bzx.2_Missense_Mutation_p.G296D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	296	Ig-like C2-type 3.				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|Hsp90 protein binding|growth factor 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)	CCGGGTTACACCATCTATAGT	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				52			56		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27203938	27203938	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:27203938C>T	uc003cds.1	-	13	1513	c.1215G>A	c.(1213-1215)taG>taA	p.*405*	NEK10_uc010hfj.3_Intron|NEK10_uc010hfk.3_Intron			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	0							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAATGTGATCTAGTAAGTAC	0.423000														112			85		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139754527	139754527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:139754527G>A	uc003vvl.1	-	3	1671	c.797C>T	c.(796-798)aCt>aTt	p.T266I	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	266						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTGGCTAAGAGTGTTTGGGGA	0.428000														48			58		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835375	38835375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38835375C>T	uc003ciq.3	-	0	127	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	43					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCTTCTGCTCCCTATGCTTC	0.527000														48			30		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459993	27459993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:27459993G>A	uc002dor.2	+	9	1620	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	IL21R_uc002doq.2_Missense_Mutation_p.E336K|IL21R_uc002dos.2_Missense_Mutation_p.E336K|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	336					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGAGCTACAAGAACCAGCAGA	0.657000			T	BCL6	NHL									35			19		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38511923	38511923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38511923C>T	uc010ive.1	-	5	1037	c.705G>A	c.(703-705)tgG>tgA	p.W235*	LIFR_uc003jli.2_Nonsense_Mutation_p.W235*	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	235					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCCAGTCACTCCACTCTTCGA	0.368000			T	PLAG1	salivary adenoma									22			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047693	9047693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9047693G>A	uc002mkp.3	-	4	34142	c.33938C>T	c.(33937-33939)cCt>cTt	p.P11313L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11315	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						TGGTATACCAGGTGAAATAGT	0.483000														20			22		0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42176656	42176656	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:42176656A>C	uc003osa.4	-	5	508	c.462T>G	c.(460-462)gaT>gaG	p.D154E	MRPS10_uc011dup.2_Missense_Mutation_p.D113E	NM_018141	NP_060611	P82664	RT10_HUMAN	Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), nuclear gene encoding mitochondrial protein, mRNA.	154					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCAAGTAGACATCTGCTGTGC	0.388000														46			69		0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551448	125551448	+	Silent	SNP	C	T	T	rs149596287		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125551448C>T	uc011lzd.2	+	0	237	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCTATTCCTCCGCCATCGGCC	0.602000														284			124		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398462	126398462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:126398462C>T	uc003ifj.4	+	12	12446	c.12446C>T	c.(12445-12447)gCt>gTt	p.A4149V	FAT4_uc011cgp.2_Missense_Mutation_p.A2412V|FAT4_uc003ifi.1_Missense_Mutation_p.A1627V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4149	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCAGCCAAGCTTTGGCAGCA	0.413000														55			59		0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17412815	17412815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:17412815G>A	uc002grl.3	-	4	565	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	PEMT_uc002grj.3_Missense_Mutation_p.P134S|PEMT_uc002grk.3_Missense_Mutation_p.P134S|PEMT_uc010vwx.2_Missense_Mutation_p.P171S	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		ATGTTGAAGGGGAACACGGTC	0.592000														11			52		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730827	100730827	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:100730827C>T	uc003uxq.3	+	2	465	c.234C>T	c.(232-234)ttC>ttT	p.F78F	TRIM56_uc003uxr.3_Silent_p.F78F|TRIM56_uc022aiw.1_Silent_p.F78F	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	78					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)					CCAACTTCTTCGTCAATGGGC	0.692000														123			52		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964030	111964030	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:111964030G>A	uc001eba.3	-	7	827	c.771C>T	c.(769-771)atC>atT	p.I257I	OVGP1_uc001eaz.3_Silent_p.I219I|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	257					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGATCCCCATGATGAGCTTCT	0.507000														42			37		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401729	23401729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:23401729C>T	uc002zwt.3	-	6	1116	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	320							binding	p.M319T(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GTCTCCACCTCCATGGCACGG	0.617000														44			37		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282361	130282361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130282361G>A	uc010htl.3	+	1	545	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	172	Nonhelical region.|VWFA 1.				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						AGCTTCTGAGGAAAACCTGAA	0.483000														24			19		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113249575	113249575	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:113249575G>A	uc003ynu.3	-	66	10630	c.10471C>T	c.(10471-10473)Cct>Tct	p.P3491S	CSMD3_uc003yns.3_Missense_Mutation_p.P2693S|CSMD3_uc003ynt.3_Missense_Mutation_p.P3451S|CSMD3_uc011lhx.2_Missense_Mutation_p.P3322S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3491						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATCATCAGGAACTGTGAAT	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				65			15		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094555	125094555	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:125094555C>T	uc003yqw.3	+	32	4453	c.4247C>T	c.(4246-4248)cCa>cTa	p.P1416L	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1416	C2 5.					integral to membrane		p.P1416P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCACATTCCCAAAAGAGTCC	0.478000														81			180		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533604	88533604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:88533604G>A	uc003hqu.3	+	3	386	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	89					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GCAGAAGTAGGAGGGAAGAGT	0.463000														15			11		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209873	57209873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:57209873G>A	uc001cym.4	-	9	1860	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	485								p.S484S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCCGAGATGGAACTTGTCTT	0.428000														59			46		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67170829	67170829	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:67170829G>A	uc010dfa.1	-	24	3846	c.2967C>T	c.(2965-2967)ttC>ttT	p.F989F	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	989					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGAGAATCAAGAAGTATAATG	0.378000														122			46		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284200	130284200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130284200C>T	uc010htl.3	+	2	1055	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	342	Nonhelical region.|VWFA 2.				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						GGTGACCCACCGAGATTCAGA	0.557000														143			116		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212578363	212578363	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:212578363C>T	uc002veg.1	-	7	992	c.894G>A	c.(892-894)gtG>gtA	p.V298V	ERBB4_uc002veh.1_Silent_p.V298V|ERBB4_uc010zji.1_Silent_p.V298V|ERBB4_uc010zjj.1_Silent_p.V298V|ERBB4_uc010fut.1_Silent_p.V298V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	298	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGAATCTACCACAAAGTTAT	0.333000										TSP Lung(8;0.080)				44			16		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830833	46830833	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:46830833C>T	uc003oyo.3	-	15	2280	c.1991_splice	c.e15-1	p.G664_splice	GPR116_uc011dwj.1_Splice_Site_p.G219_splice|GPR116_uc011dwk.1_Splice_Site_p.G93_splice|GPR116_uc003oyp.3_Splice_Site_p.G522_splice|GPR116_uc003oyq.3_Splice_Site_p.G664_splice|GPR116_uc010jzi.1_Splice_Site_p.G336_splice	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	664					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GATGTTTTCCCCTGTGTTGGA	0.453000														33			19		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25449	25449	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrGL000209.1:25449G>A	uc002qts.2	+	2	195	c.166G>A	c.(166-168)Gag>Aag	p.E56K	KIR2DL2_uc002qtt.2_Missense_Mutation_p.E56K	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	56	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TGTCAGGTTTGAGCACTTCCT	0.522000														74			59		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758501	5758501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5758501C>T	uc001mbt.2	+	0	824	c.755C>T	c.(754-756)tCa>tTa	p.S252L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACTTGTAGTTCACATCTCACC	0.388000														86			80		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679644	51679644	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51679644C>T	uc011bdt.2	+	16	2819	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	RAD54L2_uc003dbh.3_Silent_p.F487F|RAD54L2_uc011bdu.2_Silent_p.F592F|RAD54L2_uc003dbj.3_Silent_p.F224F	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	898						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCTGAACTTCACACGGAAAG	0.443000														12			5		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384259	109384259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:109384259C>T	uc002tem.4	+	19	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2422	RanBD1 3.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368000														284			93		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981331	45981331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:45981331C>T	uc001zvu.3	+	9	1404	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SQRDL_uc001zvv.3_Missense_Mutation_p.P404L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	404							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAAACCTTCCCCTTTGATCAA	0.458000														6			43		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949081	37949081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37949081G>A	uc002hsu.3	-	3	331	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IKZF3_uc002htd.3_Missense_Mutation_p.S56L|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Missense_Mutation_p.S56L|IKZF3_uc010cwe.3_Missense_Mutation_p.S90L|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Missense_Mutation_p.S90L|IKZF3_uc002hsx.3_Missense_Mutation_p.S90L|IKZF3_uc002hsy.3_Missense_Mutation_p.S90L|IKZF3_uc002hsz.3_Missense_Mutation_p.S90L|IKZF3_uc002hta.3_Missense_Mutation_p.S90L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	90					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATATTCTCTTGAATAGCTGTA	0.378000														38			22		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368966	86368966	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:86368966G>A	uc001vll.1	-	1	2137	c.1678C>T	c.(1678-1680)Cta>Tta	p.L560L	SLITRK6_uc021rla.1_Silent_p.L560L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	560	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCACTATTTAGGGCTTTCAAT	0.433000														41			39		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322373	233322373	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233322373G>A	uc002vst.4	+	5	824	c.747G>A	c.(745-747)ggG>ggA	p.G249G	ALPI_uc002vsu.4_Silent_p.G160G	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTGGACGGGAAGAACCTGG	0.627000														32			23		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140306	3140306	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3140306G>A	uc002ctv.1	-	4	1052	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.L240L|ZSCAN10_uc002ctx.1_Silent_p.L250L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	322					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAAAGGCACAGGAAGGAGCGC	0.677000														25			4		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402714	45402714	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:45402714G>A	uc001zun.3	-	8	1155	c.952C>T	c.(952-954)Cct>Tct	p.P318S	DUOX2_uc010bea.3_Missense_Mutation_p.P318S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	318	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCTAGGAAAGGACGGTATCCT	0.577000														5			19		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430634	43430634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:43430634C>T	uc002ovl.4	-	4	1043	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R193Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.502000														76			96		0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486637	109486637	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:109486637T>A	uc021ora.1	-	3	393	c.382A>T	c.(382-384)Atc>Ttc	p.I128F	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.I128F|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Missense_Mutation_p.I128F	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	128						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTTTTAAGGATAATCTCAGCA	0.313000														8			6		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283500	40283500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:40283500C>T	uc003ayg.3	-	1	504	c.253G>A	c.(253-255)Gga>Aga	p.G85R		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	85	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTCTTTGATCCATTCTTGATG	0.403000														91			63		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217380	183217380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:183217380G>A	uc003flr.3	-	3	1203	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	382										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGCTTACCTGAGATGTAGAC	0.473000														102			90		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28595036	28595036	+	Splice_Site	SNP	G	A	A	rs144474985		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:28595036G>A	uc003xgz.1	+	5	2870	c.2277_splice	c.e5-1	p.R759_splice		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	759						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)		GTTTTTCAAGGGTGTGGAGAG	0.527000														84			67		0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962301	17962301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:17962301C>T	uc002rct.2	+	13	1895	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.H608Y|GEN1_uc002rcu.2_Missense_Mutation_p.H608Y	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	608					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTTTTTCTCATGATTTAAA	0.378000								Homologous recombination						57			20		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66455065	66455065	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:66455065C>T	uc001ojc.1	-	2	181	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SPTBN2_uc001ojd.3_Silent_p.R2185R			O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2138	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCCCCGAGTCCGGGTCTGCC	0.677000														28			18		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10097268	10097268	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10097268G>A	uc002mmq.1	-	28	2291	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	735	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)			TGAAGCCTGGGAAGCCGTCCT	0.627000														76			41		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66199958	66199958	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:66199958T>C	uc001xin.3	+	9	2996	c.1269T>C	c.(1267-1269)aaT>aaC	p.N423N	FUT8_uc001xio.3_Silent_p.N423N|FUT8_uc010tsp.2_Silent_p.N260N|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.N423N|FUT8_uc001xiq.3_Silent_p.N294N|FUT8_uc021ruy.1_Silent_p.N294N	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	423					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGTACCCCAATTATGAATTTA	0.358000														10			14		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004808	248004809	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248004808_248004809GG>AA	uc001idn.1	-	0	390_391	c.390_391CC>TT	c.(388-393)ctccgc>ctTTgc	p.R131C		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131S(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTGC	0.589000														41			15		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831649	7831649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:7831649G>A	uc010dvt.3	+	4	1010	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.E275K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E231K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E274K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E247K|CLEC4M_uc002mhz.3_Missense_Mutation_p.E206K|CLEC4M_uc002mic.3_Missense_Mutation_p.E270K|CLEC4M_uc002mia.3_Missense_Mutation_p.E162K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	298	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CGCCTGCCAGGAAGTGAGGGC	0.597000														64			44		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688024	62688024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:62688024C>T	uc003peg.2	-	3	677	c.430G>A	c.(430-432)Gct>Act	p.A144T		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGTGAATAAGCTTCCCCAGGT	0.383000														68			19		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259862	215259862	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:215259862C>T	uc001hkq.3	+	1	367	c.198C>T	c.(196-198)ttC>ttT	p.F66F	KCNK2_uc001hko.3_Silent_p.F62F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.F51F	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	66							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCACGATATTCCTGGTGGTTG	0.507000														20			43		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400038	89400038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:89400038G>A	uc010upo.1	+	11	4596	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	ACAN_uc010upp.1_Missense_Mutation_p.E1408K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1408					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)			CCCTGGAGTAGAGGAGATCAG	0.527000														55			130		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53580613	53580613	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:53580613G>A	uc003xre.4	-	7	1699	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RB1CC1_uc003xrf.4_Nonsense_Mutation_p.R381*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	381					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCACCAGTCGGCCACAGCTA	0.398000														21			22		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:55119985C>T	uc003pcl.3	+	2	769	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R87W	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	152					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGCCTTGGATCGGTGGTATGC	0.453000														45			89		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72032285	72032285	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:72032285T>C	uc001swo.2	-	6	1997	c.1638A>G	c.(1636-1638)ccA>ccG	p.P546P		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	546	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCGGTTGCACTGGTGAAGGAG	0.343000														12			11		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67037200	67037200	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:67037200G>A	uc002eqv.3	+	6	1021	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CES4A_uc010vix.2_Silent_p.Q279Q|CES4A_uc002eqw.3_Silent_p.Q279Q|CES4A_uc010viy.2_Silent_p.Q185Q|CES4A_uc002eqx.3_Silent_p.Q85Q|CES4A_uc002eqy.3_Silent_p.Q181Q	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	279						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAGCACACAGATCCTGGTAA	0.542000														35			32		0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48083131	48083131	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:48083131T>C	uc003toh.4	+	3	507	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	99										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGTGGCCTACTCCCTGCCAGA	0.502000														67			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802642	185802642	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185802642C>A	uc002uph.3	+	3	3113	c.2519C>A	c.(2518-2520)tCt>tAt	p.S840Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	840						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGACAATTCTTCCTTAAAT	0.363000														37			16		8.60227e-14	8.67044e-14	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106811101	106811101	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:106811101C>T	uc003ymd.3	+	6	912	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZFPM2_uc011lhs.2_Silent_p.L28L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	297					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	p.S296R(1)		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)			GATTTCCAGCCTGTGCCCCTT	0.493000														104			237		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882995	228882995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228882995C>T	uc002vpq.2	-	6	2622	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	SPHKAP_uc002vpp.2_Missense_Mutation_p.G859R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G859R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	859						cytoplasm	protein binding	p.G859R(3)|p.E858*(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCTTTGTCCTTCGGAAGAG	0.488000														84			130		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067802	190067802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:190067802C>T	uc001gse.1	-	7	1879	c.1647G>A	c.(1645-1647)atG>atA	p.M549I	FAM5C_uc010pot.1_Missense_Mutation_p.M447I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	549						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)					GACCCAAAATCATATGGACCA	0.473000														37			54		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984145	41984145	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:41984145C>T	uc003gwk.2	+	0	433	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	112										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCTTCGTTCCACGTGTACG	0.562000														60			35		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294019	25294019	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:25294019G>A	uc003abg.2	+	19	2425	c.2268G>A	c.(2266-2268)ggG>ggA	p.G756G	SGSM1_uc010guu.1_Silent_p.G701G|SGSM1_uc003abh.2_Silent_p.G695G|SGSM1_uc003abj.2_Silent_p.G640G|SGSM1_uc003abi.1_Silent_p.G676G	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	756	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCCCAATGGGAACCTAGTGA	0.557000														16			16		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109850	95109850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:95109850G>A	uc001ydt.3	+	2	887	c.799G>A	c.(799-801)Gag>Aag	p.E267K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CAGCCCAAAGGAGTTCTTTGT	0.582000														28			23		0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1580207	1580207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:1580207G>A	uc001lts.2	-	3	577	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	150					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCAGGGCTGGGAGAGGCTCAT	0.662000														22			12		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127570175	127570175	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:127570175G>A	uc004bov.3	+	6	1397	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	OLFML2A_uc004bow.3_Silent_p.R214R	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	428	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGACGACAGGATCTATGTCA	0.617000														38			62		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505694	155505694	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155505694A>G	uc003iod.1	-	5	2241	c.2183T>C	c.(2182-2184)tTa>tCa	p.L728S		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	728	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGTCCTCTAATTCAACCCT	0.517000														98			101		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558049	41558050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:41558049_41558050CC>TT	uc003oql.3	+	11	1856_1857	c.1398_1399CC>TT	c.(1396-1401)gtccgg>gtTTgg	p.R467W	FOXP4_uc003oqm.3_Missense_Mutation_p.R465W|FOXP4_uc003oqn.3_Missense_Mutation_p.R454W	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	467					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACGCCGACGTCCGGCCCCCCTT	0.634000														111			143		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397273	196397273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196397273C>T	uc001gtd.1	-	9	1006	c.946G>A	c.(946-948)Gat>Aat	p.D316N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D316N|KCNT2_uc001gtf.1_Missense_Mutation_p.D316N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D316N|KCNT2_uc009wyv.1_Missense_Mutation_p.D291N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	316						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						TTTAAAAAATCCATAAGTAAA	0.378000														29			43		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182973	140182973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140182973G>A	uc003lhf.2	+	0	2191	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.D731N	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	738					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)			AACCGAAGGCGACTGTGGGCC	0.642000														72			82		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442040	41442040	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41442040G>A	uc010ehg.1	+	1	218	c.210G>A	c.(208-210)ctG>ctA	p.L70L	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.L70L|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CGGTACACCTGGGACCGAGGC	0.552000														19			24		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35793320	35793320	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:35793320C>T	uc003jjo.3	+	31	4725	c.4614C>T	c.(4612-4614)ttC>ttT	p.F1538F	SPEF2_uc003jjp.1_Silent_p.F1024F|SPEF2_uc003jjr.3_Silent_p.F593F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1538					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCGGAAGTTCCTGTTAGTAA	0.448000														47			39		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18192978	18192978	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18192978C>T	uc002nhx.1	-	3	392	c.341G>A	c.(340-342)aGc>aAc	p.S114N	IL12RB1_uc002nhw.1_Missense_Mutation_p.S74N|IL12RB1_uc010xqb.1_Missense_Mutation_p.S74N|IL12RB1_uc002nhy.3_Missense_Mutation_p.S74N	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	74	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGGAAGTGGCTGACCCCAGC	0.607000														18			17		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15953255	15953255	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:15953255A>T	uc001awx.2	+	1	443	c.230A>T	c.(229-231)aAg>aTg	p.K77M	DDI2_uc001aww.3_Missense_Mutation_p.K77M	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	77	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTACGACAGAAGGAGAATGCA	0.493000														45			31		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224756	3224756	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3224756G>A	uc022aqr.1	-	19	3303	c.2913C>T	c.(2911-2913)atC>atT	p.I971I	CSMD1_uc011kwj.2_Silent_p.I364I|CSMD1_uc003wqe.3_Silent_p.I128I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	972	CUB 6.					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)		AGGTGTGAAAGATCATTTGAA	0.557000														16			8		0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150751372	150751372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150751372G>A	uc003wir.2	-	10	836	c.719C>T	c.(718-720)cCg>cTg	p.P240L	CDK5_uc022apy.1_Non-coding_Transcript|CDK5_uc003wis.2_Missense_Mutation_p.P208L	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	240	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGGGTACATCGGATAGGGCTG	0.597000														45			12		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085872	55085872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55085872C>T	uc010ern.3	+	3	644	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	LILRA1_uc002qgg.4_Missense_Mutation_p.H59Y|LILRA1_uc002qgf.3_Missense_Mutation_p.H59Y|LILRA1_uc010yfe.1_Missense_Mutation_p.H59Y|LILRA1_uc010yff.1_Missense_Mutation_p.H47Y|LILRA1_uc010ero.3_Missense_Mutation_p.H47Y|LILRA1_uc010yfg.1_Missense_Mutation_p.H59Y			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	59	Ig-like C2-type 1.				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)		TGAGGAGTACCATCTATATAG	0.567000														36			28		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448837	89448837	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89448837A>G	uc021opo.1	-	0	673	c.673T>C	c.(673-675)Tac>Cac	p.Y225H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y225H|RBMXL1_uc001dms.3_Missense_Mutation_p.Y225H	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	225							RNA binding|nucleotide binding										GAACTTGGGTAATCTCTGCTT	0.448000														47			46		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509608	119509608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:119509608C>T	uc003pym.1	-	10	2123	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	561					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TACTTTGGATCATGAGTCAGT	0.373000														6			63		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808425	18808425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18808425C>T	uc001bax.3	+	0	1002	c.950C>T	c.(949-951)cCa>cTa	p.P317L	KLHDC7A_uc009vpg.3_Missense_Mutation_p.P99L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	317						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGAGGTTCCATCCCCTAGG	0.647000														13			22		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170152	113170152	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:113170152G>A	uc010mtz.3	-	37	8065	c.7728C>T	c.(7726-7728)gcC>gcT	p.A2576A	SVEP1_uc010mty.3_Silent_p.A502A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2576	Sushi 20.				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						AGATGATTATGGCACCATAGC	0.478000														32			44		0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76633518	76633518	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:76633518C>T	uc002bbw.1	+	4	917	c.839C>T	c.(838-840)cCc>cTc	p.P280L	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	280						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCGGGCAGTCCCATCCGCCAT	0.657000														21			20		0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80336420	80336420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:80336420C>T	uc004akw.3	-	6	967	c.899G>A	c.(898-900)aGa>aAa	p.R300K	GNAQ_uc011lso.2_Missense_Mutation_p.R98K|GNAQ_uc004akv.2_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	300					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTGGGCATCTCTCTGGGGTCC	0.463000			Mis		uveal melanoma									106			45		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255633	15255633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15255633C>T	uc001iob.3	-	7	1961	c.1954G>A	c.(1954-1956)Ggc>Agc	p.G652S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	652						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCCGGGTGCCCGCATCCTGC	0.622000														42			33		0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427124	43427124	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:43427124C>T	uc001mxi.3	+	11	1610	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	TTC17_uc001mxh.3_Missense_Mutation_p.P514S|TTC17_uc010rfj.2_Missense_Mutation_p.P457S|TTC17_uc001mxj.3_Missense_Mutation_p.P284S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	514							binding	p.P514H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCCTAGAGTCCCTGTTGGTGG	0.413000														99			84		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64808718	64808718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:64808718C>T	uc001ssb.3	+	2	598	c.92C>T	c.(91-93)tCc>tTc	p.S31F	XPOT_uc009zqm.2_5'UTR	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	31	Necessary for interaction with Ran, nuclear localization and nuclear import.				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)		TTAAAAATTTCCCCAGATGCC	0.363000														48			52		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16941617	16941617	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrY:16941617C>T	uc011nas.1	+	5	1058	c.879C>T	c.(877-879)ttC>ttT	p.F293F	NLGN4Y_uc004fte.2_Silent_p.F105F|NLGN4Y_uc004ftg.2_Silent_p.F273F|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.F273F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	273					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAGGTCTCTTCCAGAAGGCCA	0.522000														0			33		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927268	36927268	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:36927268C>T	uc022abv.1	-	17	2321	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	ELMO1_uc003tfi.2_Silent_p.K57K|ELMO1_uc003tfj.2_Silent_p.K57K|ELMO1_uc011kbb.2_Intron|ELMO1_uc011kbc.2_Silent_p.K441K|ELMO1_uc003tfk.2_Silent_p.K537K|ELMO1_uc010kxg.2_Silent_p.K537K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	537					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAATCTTCTCCTTTAGTTCCC	0.512000														56			19		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114636418	114636418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:114636418G>A	uc021osa.1	-	6	1601	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	SYT6_uc021orz.1_Missense_Mutation_p.P423L|SYT6_uc001eev.3_Missense_Mutation_p.P423L|SYT6_uc001eeu.3_Intron	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	508	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		TCACAACCGAGGGTTTCCCTG	0.458000														81			31		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159505705G>A	uc010piw.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000														63			115		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217544	51217544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51217544C>T	uc002psx.1	-	3	554	c.535G>A	c.(535-537)Ggg>Agg	p.G179R		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	179					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.T178M(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTCTTCAACCCCGTCTGAGCC	0.557000														25			7		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7632524	7632524	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7632524A>T	uc001qsz.3	-	15	3540	c.3412T>A	c.(3412-3414)Tct>Act	p.S1138T	CD163_uc001qta.3_Intron|CD163_uc009zfw.2_Intron	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1138					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.I1137N(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCATTCCAGAAATAGGAAGA	0.363000														37			20		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685231	117685231	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117685231C>T	uc001twn.2	-	18	3558	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	NOS1_uc021ren.1_Silent_p.R579R|NOS1_uc021reo.1_Silent_p.R579R|NOS1_uc001twm.2_Silent_p.R915R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	915					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTTCAGGATCCTCTCCCCTC	0.557000														50			66		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840840	38840840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:38840840G>A	uc021yzh.1	+	50	7505	c.7396G>A	c.(7396-7398)Gag>Aag	p.E2466K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2249K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						CCACAATATCGAGAACGCCTC	0.488000														65			95		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94495990	94495990	+	Nonsense_Mutation	SNP	C	T	T	rs61750143		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:94495990C>T	uc001dqh.3	-	28	4450	c.4346G>A	c.(4345-4347)tGg>tAg	p.W1449*		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1449					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACGGAAGCCACCCTTCCTT	0.592000														44			20		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232154	33232154	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:33232154G>A	uc003odm.1	-	13	1731	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	VPS52_uc003odn.1_Silent_p.H318H	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	507					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCCTCACATAGTGGGGCCGAG	0.567000														114			72		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980028	76980028	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:76980028G>A	uc001oyf.3	-	7	816	c.565C>T	c.(565-567)Cag>Tag	p.Q189*		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	189					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTTCTCCTGAATGCAGGGA	0.433000														39			46		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	989295	989295	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:989295C>T	uc001ack.2	+	33	5864	c.5814C>T	c.(5812-5814)ccC>ccT	p.P1938P		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1938	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTCCCAGCCCGTGGTGCTGC	0.637000														11			8		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113753248	113753248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:113753248G>A	uc001tvc.3	-	10	1237	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	SLC24A6_uc001tuz.3_Missense_Mutation_p.P48S|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.P81S	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	343					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TCCACGACGGGGACTGTGAGG	0.607000														4			4		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380613	147380613	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:147380613C>T	uc021ovm.1	+	0	531	c.531C>T	c.(529-531)atC>atT	p.I177I	GJA8_uc001epu.2_Silent_p.I177I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	177					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGTTCCGGATCCTGCCTCTGT	0.577000														185			59		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431713	101431713	+	RNA	SNP	A	C	C	rs3968287		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:101431713A>C	uc003dvj.3	+	0		c.436A>C								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GATAAATCAGAACCTCAGTGG	0.438000														85			5		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587068	53587068	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53587068G>A	uc009zmv.3	-	10	1653	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ITGB7_uc001scc.3_Missense_Mutation_p.R528W|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	528	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGGGAGCCCGGCACCCAGAT	0.632000														13			21		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998780	120998780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:120998780G>A	uc003eec.4	+	18	2227	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R696Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	696					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGGTCTCCTCGAAAAAACAAA	0.378000														34			25		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538553	56538553	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56538553C>T	uc002qmj.3	+	6	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F	NLRP5_uc002qmi.3_Silent_p.F299F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	318	NACHT.					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)		ACGTCTTCTTCCTCCCCGTTA	0.557000														11			6		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151440	50151440	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:50151440A>G	uc003cyg.3	+	18	1850	c.1675A>G	c.(1675-1677)Aaa>Gaa	p.K559E	RBM5_uc011bdj.2_Missense_Mutation_p.K503E|RBM5_uc011bdk.2_Missense_Mutation_p.K387E|RBM5_uc003cyh.3_Missense_Mutation_p.K16E	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	559	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAAAACTTTAAAAATAGCTT	0.393000														21			19		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220286266	220286266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:220286266G>A	uc002vll.3	+	5	1314	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	410	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGCTGCTGGAGGGAGAGGA	0.632000														36			63		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247704	164247704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:164247704C>T	uc003iqm.2	-	1	468	c.3G>A	c.(1-3)atG>atA	p.M1I	NPY1R_uc021xtv.1_Missense_Mutation_p.M1I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	1					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)				ATGTTGAATTCATTTTGATTG	0.343000														20			22		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320101	31320101	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:31320101G>A	uc010dmg.1	+	10	2788	c.2733G>A	c.(2731-2733)gtG>gtA	p.V911V	ASXL3_uc002kxq.2_Silent_p.V618V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCATCAGTGGATAAGGCTC	0.398000														40			14		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209139	58209139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:58209139C>T	uc001vhq.1	+	0	3351	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F	PCDH17_uc010aec.1_Missense_Mutation_p.S820F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	820					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAACCGGCCTCCAACAACCTG	0.637000														31			15		0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841407	16841407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:16841407G>A	uc003str.3	-	1	201	c.14C>T	c.(13-15)cCa>cTa	p.P5L	AGR2_uc011jxy.2_Missense_Mutation_p.P5L	NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	5					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGCTGACACTGGAATTTTCTC	0.483000														40			38		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190250	49190250	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:49190250G>A	uc002rww.3	-	9	1820	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	FSHR_uc010fbn.3_Silent_p.I544I|FSHR_uc002rwx.3_Silent_p.I508I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	570					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGCGCTTGGCGATCCTGGTGT	0.532000									Gonadal Dysgenesis, 46 XX					40			27		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346277	102346277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:102346277G>A	uc010utr.2	+	0	355	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CATAGCCATGGCTTTTGACCG	0.453000														136			136		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8338946	8338946	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:8338946C>T	uc003zkk.3	-	42	6098	c.5355G>A	c.(5353-5355)agG>agA	p.R1785R	PTPRD_uc003zkp.3_Silent_p.R1379R|PTPRD_uc003zkq.3_Silent_p.R1378R|PTPRD_uc003zkr.3_Silent_p.R1369R|PTPRD_uc003zks.3_Silent_p.R1378R|PTPRD_uc022bdj.1_Silent_p.R1375R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1785	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1784I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTTGAATTCCCTTAGGATAT	0.448000										TSP Lung(15;0.13)				9			58		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018734	36018734	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:36018734C>T	uc002oad.2	-	0	520	c.450G>A	c.(448-450)ggG>ggA	p.G150G	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	149	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCAAACTTCCCTGCCTCAC	0.607000														54			67		0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35745681	35745681	+	Silent	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:35745681C>A	uc002hns.3	+	4	635	c.585C>A	c.(583-585)ctC>ctA	p.L195L	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	195						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				CCCTGTTGCTCAGTGGAGTTG	0.403000														21			11		3.86212e-05	3.87736e-05	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70522525	70522525	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70522525G>A	uc001xly.3	-	3	2648	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.L632L|SLC8A3_uc001xlx.3_Silent_p.L633L|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	632					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGAGATAACAGGAGCGCTGTT	0.408000														9			7		0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570909	167570909	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:167570909G>A	uc011egq.2	-	0	411	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	137						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGAGCCAGACGAGGCCCGAGA	0.662000														0			12		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137341217	137341217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:137341217C>T	uc003vtt.3	-	3	677	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	226					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTACCTTTTCTAGCTGCTCA	0.433000											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		155			192		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886947	3886947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:3886947G>A	uc003bpt.4	+	1	1383	c.622G>A	c.(622-624)Gat>Aat	p.D208N	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.D208N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	208						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGAATTCTGGATATGAACTT	0.413000														144			100		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566477	4566477	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:4566477C>T	uc010qyf.2	+	0	57	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G18C(1)		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)		TCACTGGCATCCCAGGGCTGG	0.522000														60			40		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164751194	164751194	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:164751194A>G	uc003fei.3	-	22	2617	c.2554T>C	c.(2554-2556)Tca>Cca	p.S852P		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	852	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGAAACTGAAAATGTATAT	0.269000										HNSCC(35;0.089)				18			4		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922321	24922321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:24922321C>T	uc001ywo.3	+	0	1781	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	436	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCTACTGGACCCCTCATCCTG	0.537000														7			43		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115327256	115327256	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:115327256G>A	uc001lai.4	+	1	181	c.78G>A	c.(76-78)ctG>ctA	p.L26L	HABP2_uc021pyr.1_5'UTR|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_5'UTR	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	26					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGTTCTCCCTGATGTCTTTAT	0.542000														12			28		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103311700	103311701	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:103311700_103311701GG>AA	uc003ykr.2	-	23	3636_3637	c.3181_3182CC>TT	c.(3181-3183)cca>TTa	p.P1061L	UBR5_uc003yks.2_Missense_Mutation_p.P1061L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1061					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	RNA binding|protein 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)			GGAGGTGCTTGGTCCTTGACCA	0.455000														105			42		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847456	12847456	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:12847456C>T	uc002gnr.4	+	9	1131	c.804C>T	c.(802-804)atC>atT	p.I268I	ARHGAP44_uc010vvk.2_Silent_p.I268I|ARHGAP44_uc010vvl.2_Silent_p.I268I|ARHGAP44_uc002gns.4_Silent_p.I68I|ARHGAP44_uc010vvm.2_Silent_p.I268I|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	268	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCGGGAGATCGCCTTCCCCA	0.632000														1			40		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183539972	183539972	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:183539972G>A	uc001gqj.4	-	5	887	c.612C>T	c.(610-612)gtC>gtT	p.V204V	NCF2_uc010pod.2_Silent_p.V159V|NCF2_uc010poe.2_Silent_p.V123V|NCF2_uc001gqk.4_Silent_p.V204V	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	204					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.T203M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGATGCCACGACCTAAAATC	0.532000														66			35		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143378	56143378	+	Silent	SNP	C	T	T	rs80298942		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56143378C>T	uc001nit.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ATGTTATATCCTTTGATGCAT	0.403000														86			76		0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94927239	94927239	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:94927239G>A	uc003kld.3	+	5	1164	c.1006G>A	c.(1006-1008)Gtt>Att	p.V336I	ARSK_uc010jbg.3_Missense_Mutation_p.V177I|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	336						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAGTGCACATGTTCCGCTTTT	0.423000														174			138		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41571142	41571142	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:41571142C>T	uc002idu.1	+	7	1172	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	DHX8_uc010wif.1_Missense_Mutation_p.P276L|DHX8_uc010wig.2_Missense_Mutation_p.P367L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	367						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCGGAATCCTGATAGACCC	0.522000														113			83		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81225607	81225607	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:81225607G>A	uc002bfw.1	+	21	3075	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R	KIAA1199_uc010unn.1_Missense_Mutation_p.G939R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	939										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTGTTCTTCGGAGAGCCTGG	0.557000														18			20		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170395319	170395319	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:170395319C>T	uc003mba.3	+	13	1790	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	550					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTGCAATTCTGTGGTTCTT	0.338000			T	TRD@	ALL									40			37		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571367	43571367	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:43571367G>A	uc001zrf.1	-	10	1792	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	596					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACCAGCATGGACCTCCCTGT	0.552000														0			16		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159845	23159845	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:23159845C>T	uc002nqz.1	-	1	128	c.102G>A	c.(100-102)gtG>gtA	p.V34V	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TTCTCAATATCACTTTTTGGA	0.328000														8			5		0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889681	118889681	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:118889681G>A	uc010ryo.2	+	1	440	c.175_splice	c.e1+1	p.V59_splice	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.2_Splice_Site_p.V59_splice|TRAPPC4_uc010ryp.2_Splice_Site_p.V59_splice|TRAPPC4_uc010ryq.2_Splice_Site_p.V59_splice|TRAPPC4_uc021qri.1_Non-coding_Transcript	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	Homo sapiens trafficking protein particle complex 4 (TRAPPC4), mRNA.	59					ER to Golgi vesicle-mediated transport|dendrite development	Golgi stack|cis-Golgi network|dendrite|endoplasmic reticulum|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627000														52			5		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325421	150325421	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150325421T>G	uc022apv.1	-	2	955	c.475A>C	c.(475-477)Aag>Cag	p.K159Q	GIMAP6_uc003whn.3_Missense_Mutation_p.K89Q|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	89							GTP binding	p.T158S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGCTCCTTCCCAGCCCAC	0.592000														75			140		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771896	118771896	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:118771896G>A	uc001pug.3	-	5	3521	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	BCL9L_uc009zal.3_Silent_p.G847G	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	852					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGTCCCTGGCCTCCAGAGA	0.607000														3			54		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11873192	11873192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:11873192G>A	uc002dbk.3	-	2	334	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	ZC3H7A_uc002dbl.3_Missense_Mutation_p.L46F|ZC3H7A_uc002dbm.2_Missense_Mutation_p.L46F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	46						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCATTAAAAAGATTTCTCACG	0.323000														27			16		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809222	31809222	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:31809222C>G	uc001ivs.4	+	6	1022	c.959C>G	c.(958-960)cCa>cGa	p.P320R	ZEB1_uc001ivr.4_Missense_Mutation_p.P102R|ZEB1_uc010qef.2_Missense_Mutation_p.P102R|ZEB1_uc009xlj.1_Missense_Mutation_p.P246R|ZEB1_uc010qeg.1_Missense_Mutation_p.P179R|ZEB1_uc009xlk.1_Missense_Mutation_p.P102R|ZEB1_uc001ivu.4_Missense_Mutation_p.P321R|ZEB1_uc010qeh.2_Missense_Mutation_p.P253R|ZEB1_uc001ivv.4_Missense_Mutation_p.P300R|ZEB1_uc001ivt.4_Missense_Mutation_p.P102R|ZEB1_uc009xlo.2_Missense_Mutation_p.P303R|ZEB1_uc009xlp.3_Missense_Mutation_p.P304R	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	320					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAGCATCACCAGGCAGTCCC	0.423000														38			27		0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62199147	62199147	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:62199147T>C	uc001xfq.2	+	6	1189	c.785T>C	c.(784-786)tTg>tCg	p.L262S	HIF1A_uc001xfr.2_Missense_Mutation_p.L262S|HIF1A_uc001xfs.2_Missense_Mutation_p.L263S|HIF1A_uc021rua.1_Missense_Mutation_p.L286S	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	262	Interaction with TSGA10 (By similarity).|PAS 2.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATTACCGAATTGATGGGATAT	0.333000														76			69		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606094	21606094	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21606094T>C	uc003cce.3	-	2	656	c.248A>G	c.(247-249)aAc>aGc	p.N83S	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	83						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTGGCAAATGTTGCATGATAT	0.343000														59			49		0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907313	11907313	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:11907313C>T	uc001ati.3	-	1	406	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	103					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGAGGAGTCCCAGGGGCCC	0.682000														28			18		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716087	1716087	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:1716087C>T	uc010uvh.2	+	13	2766	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	922						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGGTTCGTTCCGGCCCATCC	0.632000														13			8		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864552	6864552	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:6864552C>T	uc003gjr.4	+	6	2906	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P815S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	815							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAATGAAAGTCCACATGGAGA	0.353000														48			43		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148526910	148526910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:148526910G>A	uc003wfd.2	-	4	587	c.394C>T	c.(394-396)Cct>Tct	p.P132S	EZH2_uc022aov.1_Missense_Mutation_p.P93S|EZH2_uc011kug.2_Missense_Mutation_p.P123S|EZH2_uc003wfb.2_Missense_Mutation_p.P132S|EZH2_uc003wfc.2_Missense_Mutation_p.P93S|EZH2_uc011kuh.2_Missense_Mutation_p.P123S|EZH2_uc011kui.2_Missense_Mutation_p.P132S|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	132	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.P132S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCCATATAAGGAATGTTATGT	0.299000			Mis		DLBCL									26			14		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24040498	24040498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24040498G>A	uc002zxo.3	+	9	2617	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.E454K|RGL4_uc002zxp.1_Missense_Mutation_p.E318K|RGL4_uc002zxq.3_Missense_Mutation_p.E318K			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	454	Ras-GEF.				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						CACAAGAATGGAGCAGCTCAG	0.512000														35			26		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:14613939G>A	uc003ssz.3	-	18	1858	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_uc011jxt.2_Silent_p.I538I|DGKB_uc003sta.3_Silent_p.I557I|DGKB_uc011jxu.2_Silent_p.I556I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000														55			74		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145659005	145659005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:145659005G>A	uc003ijs.2	+	12	2679	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	667	EGF-like 2.					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)		TCCTCAATGTGAACAAGTGGA	0.443000														78			81		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036072	9036072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:9036072C>T	uc003brf.1	-	18	3039	c.2363G>A	c.(2362-2364)gGc>gAc	p.G788D	SRGAP3_uc003brg.1_Missense_Mutation_p.G764D	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	788					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCATCCACGCCGTTGTGCCG	0.572000			T	RAF1	pilocytic astrocytoma									83			65		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79668244	79668245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:79668244_79668245GG>AA	uc011dyp.2	-	31	3952_3953	c.3726_3727CC>TT	c.(3724-3729)agccct>agTTct	p.P1243S	PHIP_uc003piq.3_Missense_Mutation_p.P268S|PHIP_uc003pir.3_Missense_Mutation_p.P1244S|PHIP_uc003pio.4_Missense_Mutation_p.P130S	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1244	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCACAATAGGGCTTCCAGGCT	0.297000														4			22		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9099904	9099904	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:9099904G>A	uc001apo.3	-	6	1132	c.840C>T	c.(838-840)tcC>tcT	p.S280S	SLC2A5_uc010nzy.2_Silent_p.S221S|SLC2A5_uc010nzz.2_Silent_p.S165S|SLC2A5_uc010oaa.2_Silent_p.S236S	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	280					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGACGATGATGGACAGCAGCT	0.706000														8			7		0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181922535	181922535	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:181922535C>T	uc002unq.1	+	4	580	c.361C>T	c.(361-363)Cca>Tca	p.P121S	UBE2E3_uc002unr.1_Missense_Mutation_p.P121S|UBE2E3_uc010fri.1_Missense_Mutation_p.P121S	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	121					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	p.P121L(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ATCAGATTATCCATTTAAGCC	0.343000														42			49		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985574	108985574	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:108985574C>T	uc001tng.3	-	1	749	c.586G>A	c.(586-588)Gga>Aga	p.G196R	TMEM119_uc021rdl.1_Missense_Mutation_p.G196R	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	196						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ATCCTGGCTCCGTCCCCACCG	0.682000														28			31		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931667	150931667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:150931667C>T	uc003eyr.1	-	2	916	c.438G>A	c.(436-438)tgG>tgA	p.W146*	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Nonsense_Mutation_p.W146*|P2RY14_uc021xfz.1_Nonsense_Mutation_p.W146*	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	146						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATGAGCATCCATACTATCA	0.388000														44			42		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130399857	130399857	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130399857G>A	uc003enj.3	-	17	4342	c.3761C>T	c.(3760-3762)cCt>cTt	p.P1254L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1254					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TAGTAGGATAGGATTTCCATC	0.358000														53			33		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713145	70713145	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70713145A>T	uc010ttg.2	-	0	1374	c.723T>A	c.(721-723)aaT>aaA	p.N241K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CAACCACACCATTCCCACAGC	0.478000														55			24		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174147	8174147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:8174147C>T	uc002mjf.3	-	34	4599	c.4582G>A	c.(4582-4584)Ggc>Agc	p.G1528S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1528	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGATTGCCCCAAGCCCGG	0.642000														36			37		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687357	27687357	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27687357C>T	uc001itu.2	-	3	2288	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	724					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTAAAAAATCAGGAATATTG	0.299000														19			7		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13624584	13624584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:13624584C>T	uc004cvj.3	+	5	894	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	EGFL6_uc004cvi.3_Missense_Mutation_p.H203Y|EGFL6_uc011mik.1_Missense_Mutation_p.H104Y	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	203	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGCAAATGTCACATTGGTTT	0.403000														4			81		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424576	68424576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:68424576G>A	uc003hde.4	+	0	131	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	STAP1_uc003hdf.3_Missense_Mutation_p.E17K	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	17					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATCTTCCAGGAAAGGTTAAA	0.423000														68			37		0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41318505	41318505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:41318505C>T	uc003oqh.2	+	4	821	c.734C>T	c.(733-735)cCc>cTc	p.P245L	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	245					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acggaccttccctggacctca	0.468000														19			35		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128082	117128082	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:117128082C>T	uc003pxj.1	-	2	808	c.786G>A	c.(784-786)ctG>ctA	p.L262L	GPRC6A_uc003pxk.1_Silent_p.L262L|GPRC6A_uc003pxl.1_Silent_p.L262L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	262					response to amino acid stimulus		G-protein coupled receptor activity	p.L262P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGATTTTCTTCAGTGTCCGAT	0.358000														3			23		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90107120	90107120	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:90107120C>T	uc003kju.3	+	73	16139	c.16043C>T	c.(16042-16044)aCt>aTt	p.T5348I	GPR98_uc003kjt.3_Missense_Mutation_p.T3054I|GPR98_uc003kjw.3_Missense_Mutation_p.T1009I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5348					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		AAGGATGATACTGGATTTGCA	0.378000														20			11		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	A	A	rs147284017	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:160901448G>A	uc002ube.2	-	1	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_uc010zcp.2_Silent_p.L110L|PLA2R1_uc002ubf.3_Silent_p.L110L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000														95			40		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555763	101555763	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:101555763C>T	uc001thz.4	-	12	2009	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	540					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTGATAAACTGACAAGTAT	0.308000														138			99		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106877872	106877872	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:106877872G>A	uc021ser.1	-	409		c.13053C>T								Parts of antibodies, mostly variable regions.																		CAGGGTCTCCGAAGGCTTCAC	0.627000														30			32		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703118	139703118	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139703118C>T	uc003yvd.3	-	36	3202	c.2755_splice	c.e36-1	p.G919_splice	COL22A1_uc011ljo.2_Splice_Site_p.G219_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	919	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGGGAGCACCCTGTTCAGAGA	0.547000										HNSCC(7;0.00092)				31			23		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47775473	47775473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:47775473G>A	uc002zji.4	+	11	1975	c.1868G>A	c.(1867-1869)aGa>aAa	p.R623K	PCNT_uc002zjj.3_Missense_Mutation_p.R505K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	623	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTCAGACAGATGCTGCGTA	0.627000														16			24		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671264	39671264	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:39671264C>T	uc021wjc.1	+	0	81	c.81C>T	c.(79-81)ccC>ccT	p.P27P	KCNJ15_uc002ywv.3_Silent_p.P27P|KCNJ15_uc002yww.3_Silent_p.P27P|KCNJ15_uc002ywx.3_Silent_p.P27P	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	27					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCAACAGACCCCGCGTCATGT	0.552000														43			60		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169851889	169851889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:169851889G>A	uc002ueo.1	-	6	707	c.581C>T	c.(580-582)tCa>tTa	p.S194L		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	194	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCCCCCACTGAATTGCAGTC	0.358000														50			94		0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776311	44776311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:44776311C>T	uc003cnu.1	+	2	799	c.398C>T	c.(397-399)cCa>cTa	p.P133L	ZNF501_uc021wwq.1_Missense_Mutation_p.P133L	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GGAGAGAAACCATATAAATGT	0.393000														50			29		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229524	3229524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:3229524C>T	uc004crg.4	-	6	6877	c.6720G>A	c.(6718-6720)atG>atA	p.M2240I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2240						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)				TGGCCGGTTTCATCACCACAT	0.522000														6			65		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630875	122630875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:122630875C>T	uc003efz.1	-	19	3242	c.2938G>A	c.(2938-2940)Gac>Aac	p.D980N	SEMA5B_uc011bju.1_Missense_Mutation_p.D886N|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.D980N|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	980	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCTCCGTCGTCAGTGCAC	0.647000														14			17		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:168833510G>A	uc011bpj.1	-	7	2553	c.2150C>T	c.(2149-2151)tCg>tTg	p.S717L	MECOM_uc010hwk.1_Missense_Mutation_p.S552L|MECOM_uc003ffj.3_Missense_Mutation_p.S594L|MECOM_uc003ffi.3_Missense_Mutation_p.S529L|MECOM_uc011bpi.1_Missense_Mutation_p.S530L|MECOM_uc003ffn.3_Missense_Mutation_p.S529L|MECOM_uc003ffk.2_Missense_Mutation_p.S529L|MECOM_uc003ffl.2_Missense_Mutation_p.S689L|MECOM_uc011bpk.1_Missense_Mutation_p.S529L|MECOM_uc010hwn.2_Missense_Mutation_p.S717L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAAGGTAACGATCTCAAGTC	0.438000														33			40		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693354	187693354	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:187693354T>A	uc002upu.1	-	8	1299	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	420					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTGGTTCTTTCTGCTTTGA	0.328000														52			17		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														19			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165229	3165229	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3165229C>T	uc022aqr.1	-	24	4328	c.3938G>A	c.(3937-3939)gGa>gAa	p.G1313E	CSMD1_uc011kwj.2_Missense_Mutation_p.G706E|CSMD1_uc003wqe.3_Missense_Mutation_p.G470E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1314	CUB 8.					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)		AATGGTCTTTCCTGGGTCTGC	0.438000														115			104		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287293	238287293	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:238287293G>A	uc002vwl.2	-	5	2768	c.2483C>T	c.(2482-2484)cCa>cTa	p.P828L	COL6A3_uc002vwo.2_Missense_Mutation_p.P622L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.P622L|COL6A3_uc002vwr.3_Missense_Mutation_p.P421L|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	828	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAGCGAGTGGTACTTCCTC	0.547000														165			231		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926745	157926745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:157926745G>A	uc003wno.3	-	8	1301	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	PTPRN2_uc003wnp.3_Missense_Mutation_p.R377C|PTPRN2_uc003wnq.3_Missense_Mutation_p.R394C|PTPRN2_uc003wnr.3_Missense_Mutation_p.R356C|PTPRN2_uc011kwa.2_Missense_Mutation_p.R417C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	394						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCACTCAGACGATGGACCTGA	0.597000														38			55		0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123536859	123536859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:123536859C>T	uc003ies.2	-	2	383	c.338G>A	c.(337-339)gGg>gAg	p.G113E	IL21_uc010int.3_Missense_Mutation_p.G113E	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	106					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CTGTCTTCTCCCTGCATTTGT	0.348000														69			25		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672482	198672482	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:198672482C>T	uc001gur.1	+	6	813	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTPRC_uc001gut.1_Silent_p.V50V|PTPRC_uc009wze.1_Silent_p.V99V|PTPRC_uc009wzf.1_Silent_p.V99V|PTPRC_uc021pgy.1_Silent_p.V165V|PTPRC_uc010ppg.1_Silent_p.V147V|PTPRC_uc001guu.1_Silent_p.V254V|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	211					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGCGCTGTCATTTCAACCA	0.458000														81			120		0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77070063	77070063	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:77070063C>T	uc001oyh.4	-	6	1011	c.478_splice	c.e6-1	p.N160_splice	PAK1_uc010rso.2_Splice_Site_p.N62_splice|PAK1_uc001oyg.4_Splice_Site_p.N160_splice|PAK1_uc001oyi.1_Splice_Site_p.N160_splice|PAK1_uc010rsn.2_Splice_Site	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	160	Interaction with CRIPAK.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCTTCACATTCTGTGCAAAGA	0.493000														3			4		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140474589G>A	uc003lil.3	+	0	353	c.215G>A	c.(214-216)gGa>gAa	p.G72E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000														34			29		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:183756374G>A	uc011bqv.2	+	6	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_uc003fmj.3_Missense_Mutation_p.G191E|HTR3D_uc011bqu.2_Missense_Mutation_p.G316E|HTR3D_uc010hxp.3_Missense_Mutation_p.G145E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000														28			17		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57489826	57489826	+	Missense_Mutation	SNP	C	T	T	rs139148204		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:57489826C>T	uc003dit.2	-	8	1184	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	DNAH12_uc003diu.2_Missense_Mutation_p.D335N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	335	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCATTTTGTCGTCATCAAAT	0.363000														37			18		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150556111	150556111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150556111G>A	uc003why.1	+	3	6049	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	ABP1_uc003whz.1_Missense_Mutation_p.E611K|ABP1_uc003wia.1_Missense_Mutation_p.E611K	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	611					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGGCTGGCAGGAGGAGCAGGC	0.647000														7			12		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700786	49700787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:49700786_49700787CC>TT	uc003cxe.4	+	6	11309_11310	c.11195_11196CC>TT	c.(11194-11196)ccc>cTT	p.P3732L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACTCCGGGCCCGCTGCACTGC	0.624000														52			33		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872825	39872825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:39872825G>A	uc010lwy.1	+	10	1209	c.967G>A	c.(967-969)Gac>Aac	p.D323N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.D64N|IDO2_uc003xnp.1_Missense_Mutation_p.D64N	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	310					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTTCATAGAAGACATCCACTC	0.493000														42			30		0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54858877	54858877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:54858877G>A	uc001sgb.3	-	2	177	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	31							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGATGATAAGGAAACCTGCAA	0.408000														89			61		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33565766	33565766	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:33565766C>T	uc002xbi.2	+	4	401	c.84C>T	c.(82-84)ctC>ctT	p.L28L	MYH7B_uc010gfa.1_5'UTR	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	0			P -> T (in dbSNP:rs17092199).			membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTTGAACCTCCAGGGTTTCC	0.607000														146			117		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814813	13814813	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13814813G>A	uc003jfd.2	-	42	7173	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2377	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2376V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATGAGGCTCGAAAATGATCT	0.418000									Kartagener syndrome					29			31		0	0	1	0	0
CCDC34	91057	broad.mit.edu	37	11	27362305	27362305	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:27362305T>A	uc001mrh.1	-	4	899	c.845A>T	c.(844-846)aAt>aTt	p.N282I		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	Homo sapiens coiled-coil domain containing 34 (CCDC34), transcript variant 1, mRNA.	282										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ATGTTTCGCATTTTCCAACCA	0.348000														36			37		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890371	229890371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:229890371C>T	uc002vpr.4	-	2	768	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PID1_uc002vps.4_Missense_Mutation_p.E242K|PID1_uc002vpt.4_Missense_Mutation_p.E211K|PID1_uc002vpu.4_Missense_Mutation_p.E162K	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	244	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)		GATTCCAATTCCTGGGAAACC	0.512000														92			36		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340104	136340104	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:136340104G>A	uc004cee.3	-	5	1001	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC2A6_uc004cef.3_Silent_p.F302F|SLC2A6_uc004ceg.3_Silent_p.F279F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	302						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGGTGCTGTCGAAGATGGACT	0.711000														7			7		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367161	107367161	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:107367161T>C	uc011lvq.2	-	0	748	c.748A>G	c.(748-750)Ata>Gta	p.I250V		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCATAGAATATTATGACCACA	0.418000														32			97		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888089	97888089	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:97888089C>T	uc011bgu.2	+	0	546	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTGACACTATCCCATTGTCTA	0.313000														11			5		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997463	21997463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:21997463C>T	uc001rfh.3	-	25	3289	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	ABCC9_uc001rfi.1_Missense_Mutation_p.G1090E	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1090	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAATCAGTCCCAGGGGTGT	0.368000														73			60		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240374	132240374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:132240374G>A	uc002tsu.4	+	4	1499	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	436					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G436S(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGAAGAGGTGGGCGTGGATTC	0.602000														126			96		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72873955	72873955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:72873955G>A	uc003tyc.3	-	12	3695	c.3343C>T	c.(3343-3345)Ccc>Tcc	p.P1115S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1115					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTGCTTGGGAGCCATGAAG	0.398000														54			25		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550874	4550874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:4550874C>T	uc010dud.2	-	10	1320	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	SEMA6B_uc010xih.1_Missense_Mutation_p.R353Q	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	353	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTGCTCTCGGAAGCGGCC	0.622000														66			39		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105005926	105005926	+	Missense_Mutation	SNP	G	A	A	rs61746133	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:105005926G>A	uc009xxi.2	+	0	283	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	58					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										GAAAGCCTTCGAAAGCAGCTA	0.498000														133			232		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303928	6303928	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:6303928C>T	uc003giy.3	+	7	2572	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	WFS1_uc003gix.3_Silent_p.I802I|WFS1_uc003giz.3_Silent_p.I620I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	802			I -> V.		ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCAAGGACATCGTGCTGCGGG	0.647000														31			28		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605159	97605159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:97605159G>A	uc010qoj.2	+	5	718	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	ENTPD1_uc001kle.1_Missense_Mutation_p.E214K|ENTPD1_uc001kli.4_Missense_Mutation_p.E214K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.E99K|ENTPD1_uc010qol.2_Missense_Mutation_p.E99K|ENTPD1_uc001klh.4_Missense_Mutation_p.E207K|ENTPD1_uc010qom.2_Missense_Mutation_p.E207K|ENTPD1_uc010qon.2_Missense_Mutation_p.E69K|ENTPD1_uc009xva.3_Missense_Mutation_p.E69K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	207					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CAATAATCAGGAAACCTTTGG	0.453000														67			54		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324252	79324252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79324252C>T	uc010mpk.3	-	7	3062	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	PRUNE2_uc022bih.1_Missense_Mutation_p.G802R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	980					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTCGTCTCCAGCAAATGTT	0.448000														62			35		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31573035	31573035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:31573035G>A	uc002rnv.1	-	24	2765	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	896					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R896R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCAGTGCCCCGGATGTTGGGG	0.537000														146			70		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68423887	68423887	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:68423887G>A	uc003xxq.4	-	3	577	c.321C>T	c.(319-321)gtC>gtT	p.V107V	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.V107V	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	107					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTTCTATGAGGACCCTGAATT	0.378000														71			129		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143422	55143422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55143422G>A	uc002qgj.3	+	5	735	c.395G>A	c.(394-396)aGc>aAc	p.S132N	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.S132N|LILRB1_uc002qgk.3_Missense_Mutation_p.S132N|LILRB1_uc002qgm.3_Missense_Mutation_p.S132N|LILRB1_uc010erq.3_Missense_Mutation_p.S132N|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	132	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCAGCCCAGCCCCGTGGTG	0.562000										HNSCC(37;0.09)				66			53		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343399	103343399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:103343399G>A	uc002tcb.2	-	3	400	c.332C>T	c.(331-333)tCc>tTc	p.S111F	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S50F	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	111					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGCCAGCAAGGAAGACCGTCT	0.532000														89			40		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715106	55715106	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55715106C>T	uc010spi.2	+	0	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGTTCTTCCCACATGGTTG	0.393000														51			30		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627361	38627361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38627361C>T	uc021wvo.1	-	14	2660	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N	SCN5A_uc021wvk.1_Missense_Mutation_p.D870N|SCN5A_uc021wvl.1_Missense_Mutation_p.D870N|SCN5A_uc021wvm.1_Missense_Mutation_p.D870N|SCN5A_uc021wvn.1_Missense_Mutation_p.D870N|SCN5A_uc021wvp.1_Missense_Mutation_p.D870N|SCN5A_uc021wvq.1_Missense_Mutation_p.D870N|SCN5A_uc021wvr.1_Missense_Mutation_p.D870N|SCN5A_uc021wvs.1_Missense_Mutation_p.D870N|SCN5A_uc021wvt.1_Missense_Mutation_p.D870N|SCN5A_uc021wvu.1_Missense_Mutation_p.D870N|SCN5A_uc021wvv.1_Missense_Mutation_p.D870N|SCN5A_uc021wvj.1_Missense_Mutation_p.D736N|SCN5A_uc021wvi.1_Missense_Mutation_p.D736N|SCN5A_uc021wvw.1_Missense_Mutation_p.D481N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	870					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGTCGCTGTCCCTCAGCTCC	0.562000														105			95		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352442	103352442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:103352442C>T	uc001dum.3	-	62	5133	c.4815G>A	c.(4813-4815)atG>atA	p.M1605I	COL11A1_uc001duk.3_Missense_Mutation_p.M789I|COL11A1_uc001dul.3_Missense_Mutation_p.M1593I|COL11A1_uc001dun.3_Missense_Mutation_p.M1554I|COL11A1_uc009weh.3_Missense_Mutation_p.M1477I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1593	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.M1605L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGAAATTTCATATGCTCAA	0.408000														78			62		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431951	66431952	+	Missense_Mutation	DNP	AC	TT	TT	rs144950468		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:66431951_66431952AC>TT	uc003dmx.3	-	16	2735_2736	c.2721_2722GT>AA	c.(2719-2724)ccgtgg>ccAAgg	p.W908R	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.W528R|LRIG1_uc003dmw.3_Missense_Mutation_p.W574R|LRIG1_uc010hnz.3_Missense_Mutation_p.W624R|LRIG1_uc010hoa.3_Missense_Mutation_p.W885R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	908						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATCGCTTTCCACGGCTCTTTGT	0.515000														60			50		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392341	60392341	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:60392341G>A	uc001czq.3	-	0	83	c.78C>T	c.(76-78)gtC>gtT	p.V26V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	26					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCAGAAAGGCGACAGTGCCCA	0.632000														28			15		0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960770	29960770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:29960770C>T	uc002wvr.3	+	1	202	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	57					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCTGCATTCCATCCAATGA	0.433000														55			75		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775889	24775889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:24775889G>A	uc003xed.4	+	2	2554	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	NEFM_uc011lac.1_Missense_Mutation_p.E623K|NEFM_uc010lue.3_Missense_Mutation_p.E465K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	841	Tail.					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)		CCCAGCAGATGAAAAGAAGGG	0.498000														33			17		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250981	21250981	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:21250981G>A	uc009yid.3	+	14	1767	c.1614G>A	c.(1612-1614)ggG>ggA	p.G538G	NELL1_uc010rdp.2_Silent_p.G270G|NELL1_uc001mqe.3_Silent_p.G510G|NELL1_uc001mqf.3_Silent_p.G510G|NELL1_uc010rdo.2_Silent_p.G453G	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	510	EGF-like 4.				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						GCTACGTGGGGAACGGGACCA	0.577000														60			31		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640089	7640089	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7640089C>T	uc001qsz.3	-	7	2044	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	CD163_uc001qta.3_Missense_Mutation_p.G639E|CD163_uc009zfw.2_Missense_Mutation_p.G672E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	639	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCTTTTCCAAAACGTGC	0.483000														57			52		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498583	147498583	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:147498583C>T	uc003lox.2	+	23	2348	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	SPINK5_uc010jgs.1_Missense_Mutation_p.R731C|SPINK5_uc010jgr.2_Missense_Mutation_p.R740C|SPINK5_uc003low.2_Missense_Mutation_p.R759C|SPINK5_uc003loy.2_Missense_Mutation_p.R759C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	759					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTATTCTCGCTCCAGATC	0.403000														47			34		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823685	74823685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:74823685C>T	uc021rwl.1	+	0	199	c.199C>T	c.(199-201)Cca>Tca	p.P67S	VRTN_uc001xpw.4_Missense_Mutation_p.P67S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	67					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAGCCTGTATCCAGAAGATGC	0.662000														36			38		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294114	31294114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:31294114C>T	uc003jhe.2	+	2	634	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	CDH6_uc003jhd.2_Missense_Mutation_p.L92F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L92V(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAAATATATCCTTTCAGGAGA	0.383000														34			32		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939098	939098	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:939098G>A	uc003sjo.4	-	8	1018	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ADAP1_uc003sjm.4_Silent_p.F101F|ADAP1_uc011jvs.2_Silent_p.F180F|ADAP1_uc003sjn.4_Silent_p.F203F|ADAP1_uc010ksc.3_Silent_p.F203F	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	275	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CATCCATGGTGAACCAGCGCT	0.637000														16			22		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665918	157665918	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:157665918C>T	uc001fqz.4	-	6	1336	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.V74V|FCRL3_uc001frb.3_Silent_p.V348V|FCRL3_uc001frc.1_Silent_p.V348V	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	348	Ig-like C2-type 4.					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)					CACTCTCCTTCACGGTGAGAA	0.522000														51			88		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141989	42141989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:42141989C>T	uc003baz.1	+	13	1664	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.L547F|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	547							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAGAATTTCTTCTCAGTGC	0.537000														2			8		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602163	234602163	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:234602163C>T	uc002vuv.4	+	0	652	c.513C>T	c.(511-513)ttC>ttT	p.F171F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Silent_p.F171F	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	172			Missing (in CN2).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTACCTCTTCAGGGGTTTTC	0.498000														203			104		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640966	57640966	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57640966C>T	uc002qny.3	+	3	1279	c.923C>T	c.(922-924)tCt>tTt	p.S308F	USP29_uc021vci.1_Missense_Mutation_p.S308F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	308					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAATTCCATCTTTTGCTGAT	0.433000														31			44		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74315124	74315125	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:74315124_74315125CC>TT	uc003hgz.1	+	8	1178_1179	c.1131_1132CC>TT	c.(1129-1134)taccag>taTTag	p.Q378*	AFP_uc011cbg.1_Nonsense_Mutation_p.Q152*	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	378	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAAGGATACCAGGAGTTATT	0.361000									Alpha-Fetoprotein, Hereditary Persistence of					41			27		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593663	101593663	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:101593663G>A	uc003knm.3	-	6	1544	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	419					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAGTAGCTGCGAAGCTGGATG	0.294000														22			30		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661530	4661530	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:4661530C>T	uc010qyk.2	+	0	586	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTCTTCTTCCCACTGCCCT	0.507000														142			105		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767696	39767696	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39767696G>A	uc002hxg.4	-	2	811	c.672C>T	c.(670-672)cgC>cgT	p.R224R	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCAACACCCGGCGCAGGCCAT	0.627000														57			57		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21065005	21065005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21065005C>T	uc002zsz.4	-	51	6152	c.5891G>A	c.(5890-5892)cGa>cAa	p.R1964Q	PI4KA_uc002zsy.4_Missense_Mutation_p.R774Q	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1964	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGGTAGCCTCGGACACACAT	0.597000														147			25		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020985	90020985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:90020985G>A	uc003kju.3	+	46	10085	c.9989G>A	c.(9988-9990)aGa>aAa	p.R3330K	GPR98_uc003kjt.3_Missense_Mutation_p.R1036K|GPR98_uc003kjv.3_Missense_Mutation_p.R930K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3330					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		CATGAAGAAAGAAATGAAGAA	0.279000														3			5		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62200240	62200240	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62200240G>A	uc002yfm.2	-	5	2093	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	401					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCTGGCATCAGGGAGGAGGGG	0.662000														49			32		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871242	8871242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:8871242G>A	uc002qzc.2	-	29	5106	c.4924C>T	c.(4924-4926)Cgg>Tgg	p.R1642W	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1543W|KIDINS220_uc002qzb.2_Missense_Mutation_p.R496W	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1642					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGGACATCCGAGCTATAATT	0.493000														42			60		0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151265399	151265399	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:151265399C>T	uc001exr.3	-	12	3055	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	PI4KB_uc001exs.3_Missense_Mutation_p.D779N|PI4KB_uc001exu.3_Missense_Mutation_p.D779N|PI4KB_uc010pcw.2_Missense_Mutation_p.D462N|PI4KB_uc001ext.3_Missense_Mutation_p.D794N	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	794					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.D806N(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCATCCACCATCTGC	0.562000														38			60		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085540	92085540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92085540G>A	uc001pdj.4	+	0	279	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	88	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCGGAGACGAGGAAGGCTT	0.413000										TCGA Ovarian(4;0.039)				52			35		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279880	47279880	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47279880G>A	uc001cqn.4	+	7	860	c.776_splice	c.e7-1	p.D259_splice	CYP4B1_uc009vyl.1_Splice_Site_p.D95_splice|CYP4B1_uc001cqm.4_Splice_Site_p.D258_splice|CYP4B1_uc009vym.3_Splice_Site_p.D244_splice|CYP4B1_uc010omk.2_Splice_Site_p.D95_splice|CYP4B1_uc010oml.1_Splice_Site_p.D96_splice	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	258					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTTTGGTTCAGACCAGGTCAT	0.577000														19			24		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930445	121930446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:121930445_121930446CC>TT	uc004bkc.2	-	7	1658_1659	c.1202_1203GG>AA	c.(1201-1203)ggg>gAA	p.G401E		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	401					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						TTCCCCAAAACCCATTCTCATT	0.559000														24			9		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17955082	17955082	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:17955082A>C	uc002nhn.4	-	1	245	c.145T>G	c.(145-147)Ttg>Gtg	p.L49V	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.L49V|JAK3_uc010xpx.1_Missense_Mutation_p.L49V|JAK3_uc010xpy.1_Missense_Mutation_p.L49V	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	49	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCTCAGCCAAGTGGTCCCCA	0.662000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									4			8		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438467	40438467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:40438467G>A	uc003gvc.2	-	4	2031	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.P403S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	441						nucleus	RNA binding|nucleotide binding	p.T440M(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCTGTACCAGGTTTAATGGCA	0.448000														73			69		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152407	18152407	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18152407C>T	uc001bat.3	+	2	710	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	165						cytoplasm|cytoskeleton		p.R164H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAGGGCCGCCCCTTGCCCGCC	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			14		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119217022	119217022	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:119217022G>A	uc010rzg.1	-	1	277	c.117C>T	c.(115-117)ttC>ttT	p.F39F	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	39					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CATCCTCTGGGAAAACTGGGG	0.632000														0			12		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024251	20024251	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:20024251T>A	uc001umd.3	-	13	1149	c.938A>T	c.(937-939)gAa>gTa	p.E313V	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E202V|TPTE2_uc001ume.3_Missense_Mutation_p.E236V|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	313	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TACGATGTTTTCAAGATCTTG	0.308000														29			25		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92978050	92978050	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:92978050C>T	uc003umo.3	+	23	2363	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	CCDC132_uc003ump.3_Silent_p.F715F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.F465F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	745										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTGAGTTCCTTCAGCCAC	0.413000														110			38		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55606108	55606108	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55606108G>C	uc002qix.3	-	11	1529	c.1513C>G	c.(1513-1515)Ccg>Gcg	p.P505A	PPP1R12C_uc010yfs.2_Missense_Mutation_p.P431A|PPP1R12C_uc002qiy.3_Missense_Mutation_p.P504A	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	505	Pro-rich.					cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCAGGCTCCGGAATCCTGGAG	0.607000														7			4		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559139	73559139	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:73559139G>A	uc002joh.3	+	6	727	c.573G>A	c.(571-573)gtG>gtA	p.V191V	LLGL2_uc002jog.1_Silent_p.V191V|LLGL2_uc010dgf.1_Silent_p.V191V|LLGL2_uc002joi.3_Silent_p.V191V|LLGL2_uc010dgg.2_Silent_p.V191V|LLGL2_uc002joj.3_Silent_p.V180V|LLGL2_uc010wsd.2_5'Flank|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	191					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGAGATGGTGGAGGCACTGC	0.672000														50			33		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886747	144886747	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:144886747G>A	uc003yzp.1	-	20	3007	c.3000C>T	c.(2998-3000)taC>taT	p.Y1000Y	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Silent_p.Y1000Y	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1000	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCACTGGGTATGGCCCTT	0.677000														55			20		0	0	1	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177634159	177634159	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:177634159C>T	uc003miu.3	+	4	859	c.602C>T	c.(601-603)aCc>aTc	p.T201I	HNRNPAB_uc003miv.3_Missense_Mutation_p.T201I|HNRNPAB_uc003mix.3_Missense_Mutation_p.T201I	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	201	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GTGTTTATCACCTTTAAAGAA	0.443000														34			29		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390521	52390521	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:52390521C>T	uc001jjf.1	+	1		c.1214C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		TCAATTCATCCTGTAACTGCT	0.453000														23			21		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135272633	135272633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:135272633C>T	uc003vsw.3	+	9	1397	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	456					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAACCCTTTTCATCTGGAGCT	0.433000														49			27		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42783484	42783484	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:42783484C>T	uc001uyl.2	+	22	2800	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	DGKH_uc010tfh.2_Silent_p.I911I|DGKH_uc001uym.2_Silent_p.I911I|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.I666I|DGKH_uc001uyo.2_Silent_p.I775I|DGKH_uc010tfj.2_Silent_p.I775I|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	911					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGTGAAAATCACTATATTTG	0.393000														62			39		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125113392	125113392	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:125113392C>T	uc003yqw.3	+	37	5144	c.4938C>T	c.(4936-4938)tcC>tcT	p.S1646S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1646	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATTACAACTCCCTGACTGGAG	0.438000														141			40		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597581	136597581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:136597581G>A	uc003qgx.1	-	4	1335	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	BCLAF1_uc003qgy.1_Missense_Mutation_p.S359L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S359L|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	361					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)		TTTCTCTTTTGAAGCCTCTTT	0.423000														84			49		0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382989	39382989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39382989C>T	uc002hwf.3	+	0	90	c.83C>T	c.(82-84)aCt>aTt	p.T28I		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	28	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AAGCCCACCACTGTGACCACC	0.642000														130			40		0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33606907	33606907	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:33606907G>A	uc002kzg.3	-	5	751	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	RPRD1A_uc002kze.1_Missense_Mutation_p.R213C|RPRD1A_uc010dmw.3_Missense_Mutation_p.R213C|RPRD1A_uc010dmx.3_Missense_Mutation_p.R249C	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	249										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTGACAACGAAGAAAATCT	0.388000														34			25		0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67859909	67859909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:67859909G>A	uc001xjh.1	-	3	491	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	147	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TCCATGTTGGGGCTTGAACGG	0.582000														118			89		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317862	77317862	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:77317862C>T	uc002ffc.4	-	22	4076	c.3657G>A	c.(3655-3657)agG>agA	p.R1219R		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1219	PLAC.				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						ATCAGATCTTCCTTGTGCATG	0.512000														66			43		0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227935398	227935398	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:227935398G>A	uc001hrf.2	+	1	510	c.96G>A	c.(94-96)caG>caA	p.Q32Q	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Silent_p.Q32Q|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	32						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCAGAGGCAGAAGAGGCCTG	0.602000														38			44		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213398	9213398	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9213398G>A	uc010xkk.2	-	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGAAGAGCGGGATTTCCAGGT	0.478000														43			44		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791162	81791162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:81791162C>T	uc010ijp.3	+	4	449	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	C4orf22_uc003hmf.3_Missense_Mutation_p.R117C	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	117								p.R117C(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GATCTTTATTCGTGACAGAAA	0.358000														41			43		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816301	38816301	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38816301C>T	uc002hvc.2	-	2	449	c.384G>A	c.(382-384)acG>acA	p.T128T	KRT222_uc002hvb.2_Silent_p.T88T|KRT222_uc010cxc.3_Silent_p.T88T	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	128						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GCCTCATCTTCGTGTTGAGAA	0.438000														53			43		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637779	7637779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7637779C>T	uc001qsz.3	-	10	2820	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R	CD163_uc001qta.3_Missense_Mutation_p.G898R|CD163_uc009zfw.2_Missense_Mutation_p.G931R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	898	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCAGGTCCTTTTGGACAC	0.542000														51			52		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110830251	110830251	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:110830251C>T	uc001vqw.4	-	32	2776	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	885	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCGGGGGTCCCCATGACGCC	0.522000														26			29		0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102586045	102586045	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:102586045G>A	uc001phe.2	-	6	1125	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	MMP8_uc010rut.1_Silent_p.F277F|MMP8_uc010ruu.1_Silent_p.F319F	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	342	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CTTTAAATAGGAAAATGAGGT	0.413000														18			11		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3744941	3744941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:3744941G>A	uc010ewt.3	+	9	906	c.745G>A	c.(745-747)Gat>Aat	p.D249N	ALLC_uc002qyf.3_Missense_Mutation_p.D20N	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	268							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATTCCAGAATGATGAGAATGG	0.398000										HNSCC(21;0.051)				52			93		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38954573C>T	uc002hvh.1	-	2	670	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000														33			39		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748833	101748833	+	Missense_Mutation	SNP	C	T	T	rs141543083		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:101748833C>T	uc003knn.3	-	8	1659	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G243E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G496E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G434E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	496	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.G496R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGTGAGGTTTCCCAACTTCCC	0.318000														37			31		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702822	30702822	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:30702822T>C	uc003xil.3	-	0	3712	c.3712A>G	c.(3712-3714)Agt>Ggt	p.S1238G		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1238										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATGCAACTTAAAGATACA	0.323000														20			14		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876138	35876138	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:35876138G>A	uc003jjs.3	+	7	1019	c.930G>A	c.(928-930)agG>agA	p.R310R	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	310					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGATTCATAGGGTGGATGACA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							36			22		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43172526	43172526	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:43172526G>A	uc003xpz.1	+	7	1048	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	POTEA_uc003xqa.1_Silent_p.K289K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	335										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATAAATAAGGATTGCGATA	0.318000														46			32		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683173	30683173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30683173G>A	uc003ahi.3	-	8	1112	c.995C>T	c.(994-996)tCc>tTc	p.S332F	TBC1D10A_uc003ahd.3_Missense_Mutation_p.S159F|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_Missense_Mutation_p.S46F|TBC1D10A_uc010gvs.2_Missense_Mutation_p.S46F	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCCATTGCTGGAATCATCCCT	0.637000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			28		0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67226217	67226217	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:67226217C>T	uc002erz.3	+	0	150	c.87C>T	c.(85-87)ttC>ttT	p.F29F	EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	29					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCACCAAGTTCGTGTCCCTTC	0.711000														8			7		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68053856	68053856	+	Silent	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:68053856C>A	uc001xjl.1	+	28	4141	c.3999C>A	c.(3997-3999)ccC>ccA	p.P1333P	PLEKHH1_uc010tsw.1_Silent_p.P901P|PLEKHH1_uc001xjn.1_Silent_p.P848P|PLEKHH1_uc010tsx.1_Missense_Mutation_p.H275N|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Silent_p.P198P	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1333	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGAACCCCCCCACCAACCCAC	0.502000														33			3		0.115264	0.115446	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193081933	193081933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:193081933G>A	uc011bsq.2	-	1	200	c.200C>T	c.(199-201)cCc>cTc	p.P67L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	67					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCAAGGGGCATGGGAT	0.537000														139			123		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82523261	82523261	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:82523261T>C	uc002bgt.1	-	7	952	c.783A>G	c.(781-783)gaA>gaG	p.E261E	EFTUD1_uc002bgu.1_Silent_p.E210E	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	261					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCATAAGAACTTCCTTTTTGA	0.338000														48			41		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967534	81967534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:81967534C>T	uc003hmg.4	+	1	1279	c.959C>T	c.(958-960)cCt>cTt	p.P320L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	320					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAGAGAAAGCCTTACAAGACC	0.498000														13			16		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455411	187455411	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:187455411T>C	uc003izd.1	-	1	503	c.485A>G	c.(484-486)aAc>aGc	p.N162S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	162					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGCACGGAGGTTGGGCAGGAC	0.597000														35			47		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	T	T	rs145724464		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:136599171C>T	uc003qgx.1	-	3	1101	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R281Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R281Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R283Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	283					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)		AGGACTGTATCGACTAGATCC	0.443000														24			11		0	0	1	0	0
CCL28	56477	broad.mit.edu	37	5	43388547	43388547	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:43388547C>T	uc003jnu.3	-	1	166	c.96G>A	c.(94-96)acG>acA	p.T32T	CCL28_uc003jns.3_Non-coding_Transcript|CCL28_uc003jnt.3_Non-coding_Transcript|CCL28_uc010ivn.3_5'UTR|CCL28_uc021xyh.1_Silent_p.T32T	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	Homo sapiens chemokine (C-C motif) ligand 28 (CCL28), mRNA.	32					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGAAACCTCCGTGCAACAGC	0.423000														20			26		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83183800	83183800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:83183800G>A	uc001paj.2	-	17	2302	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	DLG2_uc001pai.2_Missense_Mutation_p.L546F|DLG2_uc010rsy.1_Missense_Mutation_p.L616F|DLG2_uc021qof.1_Missense_Mutation_p.L706F|DLG2_uc010rsz.1_Missense_Mutation_p.L663F|DLG2_uc010rta.1_Missense_Mutation_p.L649F|DLG2_uc001pak.2_Missense_Mutation_p.L772F|DLG2_uc010rtb.1_Missense_Mutation_p.L634F|DLG2_uc010rsx.1_Missense_Mutation_p.L144F|DLG2_uc010rsw.1_Missense_Mutation_p.L131F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	667						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATAGGAAAGAATGAGGTCT	0.433000														35			44		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802559	129802559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:129802559G>A	uc021zfb.1	+	54	7829	c.7724G>A	c.(7723-7725)aGg>aAg	p.R2575K	LAMA2_uc003qbn.3_Missense_Mutation_p.R2573K|LAMA2_uc003qbo.3_Missense_Mutation_p.R2569K|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2575	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCACCACCTAGGAGAAAACGA	0.428000														10			68		0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21377654	21377654	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21377654T>C	uc010gsu.1	+	6	729	c.729T>C	c.(727-729)atT>atC	p.I243I	P2RX6_uc002ztz.2_Silent_p.I217I|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	243					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TGTTCCGCATTGGGGACCTCG	0.612000														46			39		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:56140121C>T	uc002xyn.4	+	8	1507	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	PCK1_uc010zzm.2_Silent_p.L131L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000														65			53		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355339	56355339	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:56355339C>T	uc002ivu.1	-	6	1230	c.1053G>A	c.(1051-1053)agG>agA	p.R351R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	351					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCGCAGGTTCCTGGCCAGGG	0.637000														27			66		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486885	125486885	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125486885C>T	uc004bmu.1	+	0	617	c.617C>T	c.(616-618)gCt>gTt	p.A206V		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GAGACCTTAGCTGTCATTGTG	0.522000														555			112		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365902	88365902	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:88365902G>A	uc003ydy.2	+	9	1239	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	397										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGAAACTTAAGGAGAAGGAGT	0.328000														13			42		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537744	55537744	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55537744C>T	uc003xsd.1	+	3	1450	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	434					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)			ACACAGATATCATCCAGGGAA	0.448000														51			57		0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45225993	45225993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:45225993C>T	uc001cmg.4	+	14	1524	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	KIF2C_uc010olb.2_Missense_Mutation_p.S429F|KIF2C_uc010olc.2_Missense_Mutation_p.S357F|KIF2C_uc001cmh.4_Missense_Mutation_p.S416F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	470	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCTCCCGCTCCCACGCGTGC	0.527000														37			23		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518384	161518385	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:161518384_161518385CC>TT	uc001gar.3	-	2	437_438	c.253_254GG>AA	c.(253-255)gga>AAa	p.G85K	FCGR3A_uc001gas.3_Missense_Mutation_p.G84K|FCGR3A_uc001gat.4_Missense_Mutation_p.G49K|FCGR3A_uc009wuh.3_Missense_Mutation_p.G48K|FCGR3A_uc009wui.3_Missense_Mutation_p.G49K	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGTAGGCTCCCTGGCACTTC	0.540000														264			59		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63154435	63154435	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:63154435C>T	uc002jfe.3	+	2	380	c.177C>T	c.(175-177)atC>atT	p.I59I	RGS9_uc021ubw.1_Silent_p.I59I|RGS9_uc010dem.3_Silent_p.I59I|RGS9_uc002jfd.3_Silent_p.I59I	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	59	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCAATGGATCGTCCAGCGGC	0.507000														196			78		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81392143	81392143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:81392143G>A	uc003uhl.3	-	1	299	c.134C>T	c.(133-135)tCa>tTa	p.S45L	HGF_uc003uhm.3_Missense_Mutation_p.S45L|HGF_uc003uhn.1_Missense_Mutation_p.S45L|HGF_uc003uho.1_Missense_Mutation_p.S45L|HGF_uc003uhp.3_Missense_Mutation_p.S45L|HGF_uc022agw.1_Missense_Mutation_p.S45L	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	45	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTCTTTGCTGATTTTTTGAA	0.289000														12			20		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97147652	97147652	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:97147652G>A	uc021rcc.1	+	22	3169	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1031										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACATGAGGTGGAAGCTGAAAT	0.403000														53			35		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:28719005C>T	uc002rmb.2	+	0	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_uc010ezj.2_Silent_p.F8F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000														137			60		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734779	173734779	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:173734779G>A	uc003isv.3	+	6	1564	c.828G>A	c.(826-828)ggG>ggA	p.G276G		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	276						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CACAAGCTGGGGATGCCATGC	0.498000														65			61		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127833	152127833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:152127833G>A	uc001ezs.1	-	2	1807	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	581	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATATAGTGGGAACTCTGGCC	0.463000														476			194		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266831	48266831	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48266831C>T	uc002iqm.3	-	38	2862	c.2736G>A	c.(2734-2736)gaG>gaA	p.E912E		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	912	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGGCCAGTCTCACCACGGG	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							115			60		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420275	69420275	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:69420275G>A	uc004dxx.1	+	3	535	c.438G>A	c.(436-438)tgG>tgA	p.W146*		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	146					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGATATTTTGGATCCCAATTG	0.403000														3			41		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038265	16038265	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16038265G>A	uc002nbu.2	-	3	408	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CYP4F11_uc010eab.1_Silent_p.F124F|CYP4F11_uc002nbt.2_Silent_p.F124F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	124					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGAAGCCATAGAAAATCATAT	0.527000														168			109		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53504483	53504483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:53504483C>T	uc002ehi.4	+	15	2552	c.2434C>T	c.(2434-2436)Cca>Tca	p.P812S	RBL2_uc002ehj.3_Missense_Mutation_p.P522S|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	812	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGATTTCCCCAGGTGGCCA	0.502000														58			53		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090870	238090870	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:238090870C>T	uc010pyc.2	+	11		c.2376C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GCCCAATGGCCAGGTCATCAC	0.522000														11			3		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869186	38869186	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38869186A>G	uc003jln.2	+	1	442	c.40A>G	c.(40-42)Aca>Gca	p.T14A	OSMR_uc003jlm.2_Missense_Mutation_p.T14A	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	14					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTCTTCTTAACATTGCTGTC	0.338000														65			56		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041640	107041640	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:107041640G>A	uc010ywi.1	-	19	2840	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	928					intracellular transport		binding	p.S928S(1)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCTGGTTCCGAAATGCCAAA	0.408000														62			79		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039582	193039582	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:193039582G>A	uc011bsq.2	-	15	1803	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCAGGCTCGAGGAAAATGGAA	0.498000														42			31		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754579	167754579	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:167754579T>C	uc003qvs.1	+	2	1279	c.1191T>C	c.(1189-1191)tgT>tgC	p.C397C		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	397	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTTGGATTGTTCAACAGATG	0.398000														10			84		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51203899	51203899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:51203899G>A	uc003tps.3	-	5	1098	c.913C>T	c.(913-915)Cct>Tct	p.P305S	COBL_uc003tpr.4_Missense_Mutation_p.P305S|COBL_uc011kcl.2_Missense_Mutation_p.P305S|COBL_uc010kzc.3_Missense_Mutation_p.P305S|COBL_uc003tpt.3_Missense_Mutation_p.P305S|COBL_uc003tpp.4_Missense_Mutation_p.P34S|COBL_uc003tpq.4_Missense_Mutation_p.P246S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	301	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAACCTGGAGGAGGAGGGGCT	0.562000														44			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634824	179634824	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179634824G>A	uc021vsy.1	-	35	8829	c.8604C>T	c.(8602-8604)gtC>gtT	p.V2868V	TTN_uc021vsz.1_Silent_p.V2822V|TTN_uc021vta.1_Silent_p.V2822V|TTN_uc021vtb.1_Silent_p.V2822V|TTN_uc002unb.2_Silent_p.V2868V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2868							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)			CCAATTGCCCGACCACAGCTG	0.483000														91			126		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681060	3681060	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:3681060C>T	uc001lye.1	+	2	412	c.311C>T	c.(310-312)tCc>tTc	p.S104F	ART1_uc009yeb.1_Missense_Mutation_p.S104F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	104					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ACCCGTCCATCCCCGCCACCC	0.652000														23			21		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96278526	96278526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:96278526G>A	uc004atw.3	+	6	1418	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N	FAM120A_uc004atv.3_Missense_Mutation_p.D465N|FAM120A_uc004atx.3_Missense_Mutation_p.D247N|FAM120A_uc004aty.3_Missense_Mutation_p.D246N|FAM120A_uc004atz.3_Missense_Mutation_p.D114N|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	465						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCCGACAACGACGAGGGCAG	0.652000														54			19		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760924	164760924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:164760924C>T	uc003fei.3	-	16	1990	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	643	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T642R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTCTTCTGTGGTTTCA	0.368000										HNSCC(35;0.089)				20			19		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005187	1005187	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:1005187G>A	uc002lqo.1	+	2	1687	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	563					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGGGACACGGCCTCACCCAT	0.642000														39			40		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862108	1862108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:1862108G>A	uc021qbv.1	+	4	268	c.246G>A	c.(244-246)atG>atA	p.M82I	TNNI2_uc021qbt.1_Missense_Mutation_p.M61I|TNNI2_uc021qbu.1_Missense_Mutation_p.M61I|TNNI2_uc010qxe.1_Missense_Mutation_p.M82I	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	82					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTACGACATGGAGGTGAGGG	0.701000														25			20		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27458944	27458944	+	Silent	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27458944A>G	uc001itm.3	+	7	1659	c.1056A>G	c.(1054-1056)gcA>gcG	p.A352A	MASTL_uc001itl.3_Silent_p.A352A|MASTL_uc009xkw.2_Silent_p.A352A|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	352	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAAATCTGCAAATGCCATTG	0.413000														54			46		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71489744	71489744	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:71489744C>T	uc003kbw.4	+	4	803	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	MAP1B_uc010iyw.1_Silent_p.L205L|MAP1B_uc010iyx.1_Silent_p.L62L|MAP1B_uc010iyy.1_Silent_p.L62L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	188						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCTTAACCCTGTTCTGTCC	0.418000														47			35		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167673923	167673923	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:167673923T>C	uc010jjd.3	+	26	5952	c.5952T>C	c.(5950-5952)aaT>aaC	p.N1984N	ODZ2_uc003lzr.4_Silent_p.N1754N|ODZ2_uc003lzt.4_Silent_p.N1357N|ODZ2_uc010jje.3_Silent_p.N1248N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGAAAGCAATGCTTCGGTCA	0.552000														37			36		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70993717	70993717	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:70993717T>G	uc002ezr.3	-	38	6123	c.5972A>C	c.(5971-5973)aAg>aCg	p.K1991T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1992										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)				GCTCTGAAGCTTGTCAGCTGC	0.458000														32			7		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423017	26423017	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26423017G>A	uc003abz.1	+	42	7327	c.7077G>A	c.(7075-7077)ccG>ccA	p.P2359P	MYO18B_uc003aca.1_Silent_p.P2240P|MYO18B_uc010guy.1_Silent_p.P2241P|MYO18B_uc010guz.1_Silent_p.P2239P|MYO18B_uc011aka.1_Silent_p.P1513P|MYO18B_uc011akb.1_Silent_p.P1872P|MYO18B_uc010gva.1_Silent_p.P342P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2359						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AATCCAGACCGAGCATGGGGA	0.567000														91			71		0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706251	41706251	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:41706251G>A	uc001uxu.1	-	0	686	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	133	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGAGACACACGACCCGTGTAG	0.607000														46			39		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48151297	48151297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48151297C>T	uc010dbm.3	+	7	1638	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	ITGA3_uc010dbl.3_Missense_Mutation_p.P392S	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	392					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGTGGGAGCTCCGTTTGAAGG	0.557000														77			25		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124751	104124751	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:104124751G>A	uc010mtd.3	-	3	1325	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	BAAT_uc004bbd.4_Missense_Mutation_p.L406F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	406					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	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase 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)	TGCTTCCTGAGAAATCTCTGG	0.478000														43			68		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117301	109117301	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:109117301T>C	uc003kou.1	+	9	2540	c.1577_splice	c.e9+2	p.R526_splice		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	526					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCATTTAAGGTACTTTTACCT	0.308000														20			14		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848296	54848296	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54848296C>T	uc002qfj.3	-	5	1128	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	LILRA4_uc002qfi.3_Silent_p.K291K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	357	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGCCCCCTCCTTGGTCAGAA	0.602000														89			83		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378681	51378681	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51378681C>T	uc011bds.2	+	37	3803	c.3780C>T	c.(3778-3780)acC>acT	p.T1260T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1260	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGCATTTACCCTGCTCCTTT	0.612000														25			21		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835467	172835467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:172835467C>T	uc003fin.4	-	1	239	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	19					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACAAGCTGATCATGATAGATC	0.438000														105			90		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459756	107459756	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:107459756C>T	uc002tdq.3	-	1	797	c.678G>A	c.(676-678)aaG>aaA	p.K226K	ST6GAL2_uc002tdr.3_Silent_p.K226K|ST6GAL2_uc002tds.3_Silent_p.K226K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	226					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCAGGTAATCCTTCATCGCCT	0.652000														3			11		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180963	168180963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:168180963C>T	uc010jjg.3	-	16	2155	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	SLIT3_uc003mab.3_Missense_Mutation_p.G579R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	579					Roundabout signaling pathway|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	extracellular space|mitochondrion	Roundabout binding|calcium ion 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)			CTGGCTGCTCCATCGAAAGCT	0.532000														8			6		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760148	54760148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54760148C>T	uc010yer.1	-	3	497	c.386G>A	c.(385-387)gGa>gAa	p.G129E	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G138E|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.G138E|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.L129L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACATTTCCTCCTGAGGC	0.542000														62			53		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571631	169571631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:169571631C>T	uc002uec.1	+	6	854	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	CERS6_uc002ueb.1_Missense_Mutation_p.L244F	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	244	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCTGATGCTCTTCTGGAGGT	0.388000														50			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029548	71029548	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:71029548T>C	uc001swc.4	-	1	399	c.354A>G	c.(352-354)gtA>gtG	p.V118V	PTPRB_uc001swa.4_Silent_p.V118V|PTPRB_uc001swd.4_Silent_p.V117V|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.V118V	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTTGACCACTACTCTGGAGC	0.483000														17			15		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396518	125396518	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:125396518G>A	uc001ugs.4	-	1	2258	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Silent_p.H448H|UBC_uc001ugu.1_Silent_p.H524H|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.H600H	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	600	Ubiquitin-like 8.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAGCACCAGGTGCAGGGTGG	0.552000														76			56		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634561	70634561	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70634561C>T	uc001xly.3	-	1	1333	c.579G>A	c.(577-579)gaG>gaA	p.E193E	SLC8A3_uc001xlw.3_Silent_p.E193E|SLC8A3_uc001xlx.3_Silent_p.E193E|SLC8A3_uc001xlz.3_Silent_p.E193E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	193					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCTTGCGAGTCTCTCCGTCTG	0.488000														36			36		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187644	130187644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130187644G>A	uc010htj.1	+	37	7290	c.6796G>A	c.(6796-6798)Gaa>Aaa	p.E2266K	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.E305K|COL6A5_uc010htk.1_Missense_Mutation_p.E305K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2266	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGCAGGACATGAAAATTATGG	0.378000														14			5		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284073	158284073	+	Silent	SNP	G	A	A	rs148321113		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:158284073G>A	uc003ipm.4	+	14	2988	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	GRIA2_uc011cit.2_Silent_p.A796A|GRIA2_uc003ipl.4_Silent_p.A843A|GRIA2_uc003ipk.4_Silent_p.A796A|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	843					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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	p.A843A(3)|p.A843V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GGGCCGAGGCGAAACGAATGA	0.448000														47			28		0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26140457	26140457	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:26140457C>T	uc021ojk.1	+	10	1528	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	SEPN1_uc021ojl.1_Silent_p.S457S	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	491						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCTGGTCCCTGGTGAAGG	0.617000														84			45		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159273	152159273	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:152159273T>C	uc022chn.1	-	0	870	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PNMA5_uc010ntx.3_Silent_p.K290K|PNMA5_uc010ntw.3_Silent_p.K290K|PNMA5_uc004fgy.4_Silent_p.K290K|PNMA5_uc022chm.1_Silent_p.K290K	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	290					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAGAGATGTTTCAGACGAA	0.562000														2			30		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861220	16861220	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16861220C>T	uc002neu.4	+	5	2189	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	NWD1_uc002net.4_Silent_p.S454S|NWD1_uc002nev.4_Silent_p.S383S|NWD1_uc021uqg.1_Silent_p.S454S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	589	NACHT.						ATP binding	p.A589V(1)		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						TTGTGTCTTCCCGGTAAGTCT	0.507000														16			13		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691466	68691466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:68691466C>T	uc003hdq.3	-	8	1144	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.G141E|TMPRSS11D_uc011caj.2_Missense_Mutation_p.G243E	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	360	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGCGTCCACTCCACCTTGAGG	0.413000														20			16		0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75895757	75895757	+	Silent	SNP	A	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:75895757A>C	uc001sxt.3	-	7	896	c.855T>G	c.(853-855)ggT>ggG	p.G285G	KRR1_uc009zsc.3_Silent_p.G228G	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	285	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAAAGTATTCACCACTAGCCA	0.373000														85			66		0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71510079	71510079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:71510079G>A	uc010cgc.1	-	5	877	c.371C>T	c.(370-372)cCt>cTt	p.P124L	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.P112L|ZNF19_uc002fal.1_Missense_Mutation_p.P112L|ZNF19_uc002fam.1_Missense_Mutation_p.P124L	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGTTCTCTGAGGGACACTCTT	0.453000														34			35		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071243	9071243	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9071243C>T	uc002mkp.3	-	2	16407	c.16203G>A	c.(16201-16203)gaG>gaA	p.E5401E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5403	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						TGGCCGGTCTCTCATGAGTGA	0.502000														236			248		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914479	215914479	+	Silent	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:215914479A>G	uc002vew.3	-	5	784	c.564T>C	c.(562-564)taT>taC	p.Y188Y	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	188					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTATCCTGAATAGCTGTCAC	0.333000														23			24		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108311104	108311104	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:108311104G>A	uc001dvk.1	-	6	730	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	VAV3_uc010ouw.1_Silent_p.L226L|VAV3_uc001dvl.1_Silent_p.L50L|VAV3_uc010oux.1_Silent_p.L226L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	226	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGCTGTCAGAAATCTTTTT	0.299000														94			39		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77280476	77280476	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:77280476G>A	uc004aji.3	+	6	1047	c.998G>A	c.(997-999)gGa>gAa	p.G333E	RORB_uc004ajh.3_Missense_Mutation_p.G322E	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	333	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						CTGTTTGAAGGAAAATATGGA	0.353000														169			82		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23821122	23821122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:23821122C>T	uc003sws.4	+	15	2117	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	STK31_uc003swt.4_Missense_Mutation_p.H661Y|STK31_uc011jze.2_Missense_Mutation_p.H684Y|STK31_uc010kuq.3_Missense_Mutation_p.H661Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	684			H -> R (in dbSNP:rs41273999).|H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.H684Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGAAATTTATCATGAGAGAGA	0.318000														17			44		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566965	136566965	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:136566965G>A	uc002tuu.1	-	7	2963	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	984	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCCAGTTGGGAAAATCCGAG	0.493000														56			32		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238396	53238396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53238396C>T	uc001sbc.1	-	4	932	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	290	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGATCTCCTCGTACCGGGCG	0.627000														67			46		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876891	31876891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:31876891G>A	uc003tcm.2	-	10	1567	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	PDE1C_uc003tcn.1_Missense_Mutation_p.S369F|PDE1C_uc003tco.2_Missense_Mutation_p.S429F|PDE1C_uc003tcr.3_Missense_Mutation_p.S369F|PDE1C_uc003tcs.3_Missense_Mutation_p.S369F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	369	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S369A(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)			CAGCATAAGGGATAAGGCTTT	0.418000														21			37		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217580	150217580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150217580C>T	uc003whk.3	+	1	648	c.518C>T	c.(517-519)aCc>aTc	p.T173I	GIMAP7_uc022apu.1_Missense_Mutation_p.T173I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	173							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAAGAAAACCAGTAAGGCA	0.488000														20			33		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519332	50519332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:50519332G>A	uc001zxw.3	+	6	1646	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SLC27A2_uc010bes.3_Missense_Mutation_p.E419K|SLC27A2_uc001zxx.3_Missense_Mutation_p.E237K	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	472					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGTTGACCATGAAAATTTCAT	0.403000														50			33		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023694	18023694	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18023694G>T	uc001ban.3	+	28	3818	c.3659G>T	c.(3658-3660)tGg>tTg	p.W1220L	ARHGEF10L_uc001bao.3_Missense_Mutation_p.W1181L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.W1176L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.W981L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.W993L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.W923L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.W244L	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1220					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCGACATCTGGGTGCGCAGC	0.677000														19			3		1	1	1	1	0
TTN	7273	broad.mit.edu	37	2	179442511	179442511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179442511C>T	uc021vsy.1	-	271	61163	c.60938G>A	c.(60937-60939)cGa>cAa	p.R20313Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14008Q|TTN_uc021vta.1_Missense_Mutation_p.R13941Q|TTN_uc021vtb.1_Missense_Mutation_p.R13816Q|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21240							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)			AGGTAGATCTCGCTTCTCCAC	0.398000														92			34		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419216	130419216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:130419216G>A	uc004ewe.4	-	4	887	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	IGSF1_uc004ewd.3_Missense_Mutation_p.H202Y|IGSF1_uc022cdv.1_Missense_Mutation_p.H193Y|IGSF1_uc004ewf.2_Missense_Mutation_p.H182Y|IGSF1_uc022cdw.1_Missense_Mutation_p.H202Y|IGSF1_uc004ewg.3_Missense_Mutation_p.H202Y	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	202	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATCTGGATATGAGTGCGGCAG	0.547000														7			69		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916005	42916005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:42916005G>A	uc003cmh.3	-	0	1629	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	435					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGAAACGCCCGAACCCCAGGG	0.517000														68			44		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137332423	137332423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:137332423G>A	uc003qhj.3	-	2	824	c.391C>T	c.(391-393)Cct>Tct	p.P131S	IL20RA_uc011edl.2_Missense_Mutation_p.P82S|IL20RA_uc003qhk.3_Intron|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	131	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCTAAAAAAGGATAGAACCGT	0.408000														7			28		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7682693	7682693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:7682693G>A	uc002giu.1	+	34	5688	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1892	AAA 1 (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)				TGATGGCTTTGAAATAAATCT	0.552000														1			25		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090643	147090643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:147090643C>T	uc001epq.3	+	7	1422	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	BCL9_uc010ozr.1_Missense_Mutation_p.R154W	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	228					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCTGCCCTTCGGAATGATCC	0.443000			T	"""IGH@, IGL@"""	B-ALL									276			147		0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73150988	73150988	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:73150988G>A	uc003tzb.3	-	5	912	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ABHD11_uc003tza.3_Silent_p.F170F|ABHD11_uc011kfb.2_Silent_p.F226F|ABHD11_uc003tzc.3_Silent_p.F276F	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283							hydrolase activity	p.L282L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGCCCGAGGGAAGAGCCGCA	0.602000														41			54		0	0	1	0	0
EXOSC8	11340	broad.mit.edu	37	13	37582930	37582930	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:37582930G>C	uc001uwa.3	+	9	938	c.673G>C	c.(673-675)Gta>Cta	p.V225L	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	225					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTTAACAATAGTAATGGATGA	0.398000														36			34		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886577	228886577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228886577C>T	uc002vpq.2	-	5	594	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E183K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E183K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	183						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCACCAGTTCCAGACCAATC	0.453000														100			50		0	0	1	0	0
ZNF138	7697	broad.mit.edu	37	7	64292300	64292300	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:64292300T>G	uc011kdq.2	+	2	778	c.602T>G	c.(601-603)gTa>gGa	p.V201G	ZNF138_uc003ttg.3_Missense_Mutation_p.V170G|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.V195G|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	201					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AAATGTGAAGTATGTGGAAAA	0.363000														35			50		0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941583	98941583	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:98941583C>T	uc001tfj.3	+	8	1607	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Nonsense_Mutation_p.Q329*	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	438						integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.N437N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAACCAACCAAGTAAATCC	0.373000														55			27		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590839	140590839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140590839C>T	uc003liz.3	+	0	2549	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PCDHB12_uc011dak.2_Missense_Mutation_p.P450L|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	787					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P787L(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCCCCCATTTCAG	0.373000														40			17		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579117	24579117	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24579117G>A	uc002zzn.1	+	1	213	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	57	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGCTGCTTGGATTTCCGGGA	0.607000														167			37		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088309	86088309	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:86088309G>A	uc021rxf.1	+	0	451	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	FLRT2_uc001xvr.3_Missense_Mutation_p.E151K|FLRT2_uc010atd.3_Missense_Mutation_p.E151K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	151					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGGGGGTGGAAGACGGGGC	0.507000														22			26		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155236972	155236972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155236972C>T	uc003inw.2	-	14	3823	c.3823G>A	c.(3823-3825)Gaa>Aaa	p.E1275K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1275	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGAGGCTTCATACAGGTGC	0.418000														15			21		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612572	20612572	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20612572G>A	uc010tla.2	+	0	678	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GTCGTATAAGGGAGCACTCCT	0.483000														53			46		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725562	140725562	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140725562C>T	uc003ljm.2	+	0	1962	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L654L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	656	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCCTCTCTCCGCCACTG	0.706000														45			51		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	A	A	rs145920072	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13923485G>A	uc003jfd.2	-	3	384	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	114	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)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome					53			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045956	9045956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9045956G>A	uc002mkp.3	-	4	35879	c.35675C>T	c.(35674-35676)aCt>aTt	p.T11892I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11894	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						AACAGTCAGAGTTAGAGTACT	0.488000														72			61		0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121619309	121619309	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:121619309A>G	uc001ler.2	-	2	442	c.144_splice	c.e2+1	p.W48_splice	MCMBP_uc001les.1_Splice_Site|MCMBP_uc021pzr.1_5'Flank	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	48					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CAATAAGCTTACCCACTTAGG	0.348000														26			42		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96044656	96044656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96044656G>A	uc001kjk.3	+	21	5603	c.4969G>A	c.(4969-4971)Gaa>Aaa	p.E1657K	PLCE1_uc010qnx.2_Missense_Mutation_p.E1641K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1349K|PLCE1_uc001kjp.3_Missense_Mutation_p.E15K|LOC100128054_uc001kjo.2_Intron	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1657					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAATAAAAAGGAAAGCAGACA	0.338000														20			22		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:101510519G>A	uc010svm.1	+	24	3085	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	ANO4_uc001thw.2_Missense_Mutation_p.R803Q|ANO4_uc001thx.2_Missense_Mutation_p.R838Q|ANO4_uc001thy.2_Missense_Mutation_p.R358Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	838						chloride channel complex	chloride channel activity	p.Y838N(1)|p.R803Q(1)		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						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)				104			82		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125620264	125620264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125620264G>A	uc010mwc.1	-	12	2633	c.2392C>T	c.(2392-2394)Cct>Tct	p.P798S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P798S|RC3H2_uc004bne.4_Missense_Mutation_p.P798S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	798						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTTGCCACAGGAAGAGTTGAA	0.458000														55			73		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868896	76868897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:76868896_76868897GG>AA	uc001jww.3	-	0	74_75	c.19_20CC>TT	c.(19-21)cca>TTa	p.P7L	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.P7L|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	7						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCCAGCTCTGGGAGAGAGGTC	0.624000														29			14		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392774	124392774	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:124392774G>A	uc001lgk.1	+	48	6184	c.6078G>A	c.(6076-6078)ggG>ggA	p.G2026G	DMBT1_uc001lgl.1_Silent_p.G2016G|DMBT1_uc001lgm.1_Silent_p.G1398G|DMBT1_uc021qaf.1_Silent_p.G2026G|DMBT1_uc021qag.1_Silent_p.G2016G|DMBT1_uc021qah.1_Silent_p.G1398G|DMBT1_uc009xzz.1_Silent_p.G2025G|DMBT1_uc010qtx.1_Silent_p.G746G|DMBT1_uc009yab.1_Silent_p.G729G|DMBT1_uc009yac.1_Silent_p.G320G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2026	CUB 2.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				TCTATCCCGGGAACTATCCAA	0.502000														75			98		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31674349	31674349	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:31674349C>T	uc003akh.3	+	15	1984	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	LIMK2_uc003aki.3_Silent_p.I367I|LIMK2_uc003akk.3_Silent_p.I592I|LIMK2_uc011aln.2_Silent_p.I530I	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	613						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGCTGGGCATCCCGCTGCCTG	0.607000														137			143		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28146983	28146983	+	Nonsense_Mutation	SNP	G	A	A	rs147334255		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:28146983G>A	uc003adj.3	-	1	4838	c.3883C>T	c.(3883-3885)Cga>Tga	p.R1295*	MN1_uc010gvg.3_Non-coding_Transcript	NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1295							binding	p.R1295*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ACGGAGGCTCGAGCCTTGGCG	0.592000			T	ETV6	"""AML, meningioma"""									60			57		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38135215	38135215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38135215C>T	uc003chp.1	+	11	1897	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F	DLEC1_uc003cho.1_Missense_Mutation_p.L626F|DLEC1_uc010hgv.1_Missense_Mutation_p.L626F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	626					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCCTGAAAACCTTCGGTCCAC	0.493000														56			54		0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50131829	50131829	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:50131829T>A	uc001wwu.3	-	7	806	c.629A>T	c.(628-630)aAa>aTa	p.K210I	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_5'Flank|POLE2_uc021rsr.1_Missense_Mutation_p.K184I|POLE2_uc010ano.3_Missense_Mutation_p.K210I	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	210					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|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGATATAGCTTTACTAAGGTC	0.294000														14			8		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998507	144998507	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:144998507C>A	uc003zaf.1	-	30	6171	c.6001G>T	c.(6001-6003)Gag>Tag	p.E2001*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1864*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1868*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1864*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1832*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1842*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1850*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1891*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2001	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGGCGCTCGTTCTCCGCC	0.721000														29			3		1	1	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:214170398C>T	uc001hkh.3	+	1	792	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_uc001hkg.1_Missense_Mutation_p.R174W	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000														43			89		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:121469308G>A	uc001tzj.1	-	2	600	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_uc001tzk.1_Silent_p.F198F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000														55			30		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713311	30713311	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:30713311C>T	uc003ceo.3	+	3	1018	c.636C>T	c.(634-636)ttC>ttT	p.F212F	TGFBR2_uc021wut.1_Silent_p.F90F|TGFBR2_uc003cen.3_Silent_p.F237F	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	212					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCATGGAGTTCAGCGAGCACT	0.537000														28			24		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283646	159283646	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159283646G>A	uc010piu.2	-	0	804	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCTGTCCCAGGGAACTCTGGG	0.532000														72			96		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667868	49667868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:49667868G>A	uc001jgu.3	-	4	863	c.566C>T	c.(565-567)cCc>cTc	p.P189L	ARHGAP22_uc001jgs.3_Missense_Mutation_p.P83L|ARHGAP22_uc001jgt.3_Missense_Mutation_p.P173L|ARHGAP22_uc010qgl.2_Missense_Mutation_p.P130L|ARHGAP22_uc010qgm.2_Missense_Mutation_p.P179L|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	173	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCAGCAGGGGCGCCAGGCG	0.652000														30			49		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587970	55587970	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55587970C>T	uc010rin.2	+	0	865	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGAATCCCCTGATCTACAG	0.458000														44			18		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844304	131844304	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:131844304C>T	uc003vra.4	-	24	4817	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1530						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						AGAATCTTCTCCTTGACCTGA	0.547000														186			313		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605663	54605663	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:54605663G>A	uc001cwv.1	-	3	1728	c.880C>T	c.(880-882)Cag>Tag	p.Q294*		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	294	CUB 3.					extracellular region		p.Y293fs*23(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTTGACCTGGTAGCCCGGG	0.622000														38			29		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24656302	24656302	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24656302G>A	uc001wmv.1	-	6	1664	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.P79S|IPO4_uc001wmy.1_Missense_Mutation_p.P79S|IPO4_uc001wmz.2_Missense_Mutation_p.P215S	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.P215P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCATCTATGGGGATCAGAGTC	0.552000														260			188		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529837	5529837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5529837C>T	uc021qcw.1	-	0	952	c.952G>A	c.(952-954)Gga>Aga	p.G318R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.G318R	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	318										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)		TCCTGCCTTCCTTGCCTGCTA	0.498000														33			31		0	0	1	0	0
WDR45L	56270	broad.mit.edu	37	17	80575213	80575213	+	Silent	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:80575213A>G	uc002kfq.3	-	7	960	c.765T>C	c.(763-765)caT>caC	p.H255H	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	255					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			CTGCAAAAATATGCACTGTGC	0.517000														59			27		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658667	39658667	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39658667C>T	uc002hwu.1	-	5	1266	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	KRT13_uc002hwv.1_Silent_p.E401E|KRT13_uc010wfr.2_Silent_p.E294E|KRT13_uc010cxo.3_Silent_p.E401E|KRT13_uc021txk.1_Silent_p.E294E	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	401	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGGTGGCGATCTCCTGCTCCA	0.597000														108			99		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886205	55886205	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55886205T>G	uc010spo.2	+	0	59	c.59T>G	c.(58-60)cTg>cGg	p.L20R		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CTTCTGGGACTGACAGAAGAT	0.398000														59			59		0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573390	25573390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:25573390G>A	uc001bjw.3	-	1	317	c.65C>T	c.(64-66)tCg>tTg	p.S22L	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	22										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGACCGCGAGGTCGAGGG	0.637000														50			29		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023011	76023011	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:76023011G>A	uc010kbe.3	-	5	3076	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L	FILIP1_uc003phy.1_Missense_Mutation_p.P846L|FILIP1_uc003phz.3_Missense_Mutation_p.P747L|FILIP1_uc003pia.3_Missense_Mutation_p.P846L|FILIP1_uc003pib.1_Missense_Mutation_p.P598L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	846										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTTCCACGGGTTTCTTCAA	0.448000														4			91		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714424	183714425	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:183714424_183714425GG>AA	uc003ivd.1	+	24	6674_6675	c.6599_6600GG>AA	c.(6598-6600)agg>aAA	p.R2200K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2200					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTACGTCAAAGGGGCACGGAAA	0.500000														47			24		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:154625437G>A	uc003inq.3	+	2	1597	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	TLR2_uc003inr.3_Missense_Mutation_p.E460K|TLR2_uc003ins.3_Missense_Mutation_p.E460K|TLR2_uc021xtl.1_Missense_Mutation_p.E460K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	460					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGACACTGGAAATTTTAGA	0.358000														47			47		0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101733713	101733713	+	Silent	SNP	C	T	T	rs148248545		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:101733713C>T	uc003yjs.1	-	0	603	c.99G>A	c.(97-99)ccG>ccA	p.P33P	PABPC1_uc011lhc.1_Silent_p.P33P|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Silent_p.P33P|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	33	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGGCCCGGCCGGGCTGAACT	0.662000														40			130		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320359	56320359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:56320359C>T	uc002ivt.3	+	1	335	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	LPO_uc010dco.2_Missense_Mutation_p.L7F|LPO_uc010wnr.1_Missense_Mutation_p.L7F|LPO_uc010wns.2_5'UTR|LPO_uc010dcp.3_Missense_Mutation_p.L7F	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	7					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L7L(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTTCTCCATCTCCCAGCCCT	0.532000														190			73		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038368	75038368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:75038368G>A	uc001dgg.3	-	13	3245	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1009	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCCCTCCGAAACCTGCAT	0.542000														32			30		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086318	55086318	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55086318G>A	uc010ern.3	+	4	942	c.473G>A	c.(472-474)gGa>gAa	p.G158E	LILRA1_uc002qgg.4_Missense_Mutation_p.G158E|LILRA1_uc002qgf.3_Missense_Mutation_p.G158E|LILRA1_uc010yfe.1_Missense_Mutation_p.G158E|LILRA1_uc010yff.1_Missense_Mutation_p.G146E|LILRA1_uc010ero.3_Missense_Mutation_p.G146E|LILRA1_uc010yfg.1_Missense_Mutation_p.G158E			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	160	Ig-like C2-type 2.				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)		TGTAAGGAAGGAGAAGATGAA	0.602000														75			61		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96112662	96112662	+	Silent	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96112662T>C	uc001kjq.1	-	6	937	c.849A>G	c.(847-849)aaA>aaG	p.K283K	NOC3L_uc009xuk.1_Silent_p.K68K	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	283						nuclear speck|nucleolus	binding	p.E282D(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CCTTAGTAGATTTTTCTGCTT	0.328000														24			18		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134393831	134393831	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:134393831G>A	uc004cav.3	+	14	1541	c.1339_splice	c.e14-1	p.E447_splice	POMT1_uc004cax.3_Splice_Site_p.E425_splice|POMT1_uc011mcj.2_Splice_Site_p.E203_splice|POMT1_uc004cau.3_Splice_Site_p.E425_splice|POMT1_uc004caw.3_Splice_Site_p.E371_splice|POMT1_uc011mck.2_Splice_Site_p.E308_splice|POMT1_uc011mcl.2_Splice_Site_p.E273_splice|POMT1_uc011mcm.2_Splice_Site_p.E395_splice	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	447	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TCTTTTTGCAGGAAATTGTGA	0.413000														265			110		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745186	84745186	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:84745186G>A	uc021pvc.1	+	9	2015	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	NRG3_uc010qlz.1_Missense_Mutation_p.R638Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R639Q|NRG3_uc001kcp.2_Missense_Mutation_p.R442Q|NRG3_uc001kcq.2_Missense_Mutation_p.R289Q|NRG3_uc021pvd.1_Missense_Mutation_p.R418Q|NRG3_uc021pve.1_Missense_Mutation_p.R443Q|NRG3_uc021pvf.1_Missense_Mutation_p.R289Q|NRG3_uc021pvg.1_Missense_Mutation_p.R467Q|NRG3_uc021pvh.1_Missense_Mutation_p.R251Q|NRG3_uc021pvi.1_Missense_Mutation_p.R469Q|NRG3_uc021pvk.1_Missense_Mutation_p.R179Q|NRG3_uc001kcr.2_Missense_Mutation_p.R313Q|NRG3_uc021pvl.1_Missense_Mutation_p.R289Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	663					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E663V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAGCAGATCCGAATTCTGACT	0.483000														22			18		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604304	3604304	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3604304C>T	uc010btn.3	-	8	2617	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	736					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACCATCATCCCTAACGGTG	0.587000														25			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786528	121786528	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:121786528G>A	uc003ksw.1	+	9	2192	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	SNCAIP_uc011cwl.1_Silent_p.L220L|SNCAIP_uc003ksy.1_Silent_p.L296L|SNCAIP_uc003ksx.1_Silent_p.L709L|SNCAIP_uc003ksz.1_Silent_p.L296L|SNCAIP_uc010jcu.2_Silent_p.L258L|SNCAIP_uc011cwm.1_Silent_p.L296L|SNCAIP_uc003kta.1_Silent_p.L294L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.L356L|SNCAIP_uc010jcx.1_Silent_p.L602L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.L178L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	662					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.E661K(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGGGAACTGAAGTTAGCCA	0.498000														36			17		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382861	31382861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:31382861C>T	uc001wqu.2	-	9	1459	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	STRN3_uc001wqv.2_Missense_Mutation_p.E331K|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	415					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GTTATTGGTTCAGCTATAAAG	0.373000														92			75		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85863182	85863182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:85863182G>A	uc004ams.2	-	13	1647	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	FRMD3_uc004amr.1_Missense_Mutation_p.S482L|FRMD3_uc022bja.1_Missense_Mutation_p.S438L|FRMD3_uc004amq.1_Missense_Mutation_p.S139L|FRMD3_uc022biz.1_Missense_Mutation_p.S288L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	482						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCCTCAAATGAATCTGTGTC	0.498000														174			69		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287431	46287431	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:46287431C>T	uc001van.1	+	2	351	c.271C>T	c.(271-273)Cca>Tca	p.P91S	SPERT_uc001vao.2_Missense_Mutation_p.P55S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	91						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCACTCCTATCCACTGAACCG	0.677000														55			49		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000147	3000147	+	Silent	SNP	G	A	A	rs112571277	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3000147G>A	uc022aqr.1	-	40	6471	c.6081C>T	c.(6079-6081)ttC>ttT	p.F2027F	CSMD1_uc011kwj.2_Silent_p.F1420F|CSMD1_uc010lrg.3_Silent_p.F96F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2028	CUB 12.					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)		GAATTTCAAGGAAGTCATGAT	0.418000														61			53		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947559	148947559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:148947559G>A	uc003wfp.3	+	1	462	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGGCGGCTGGAGAACGTGGA	0.632000														189			56		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322601	55322601	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55322601C>T	uc010rig.2	+	0	819	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V273A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTATGCTGTCATCTTGCTCT	0.463000										HNSCC(20;0.049)				73			51		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246090	33246090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:33246090C>T	uc021vft.1	+	2	703	c.680C>T	c.(679-681)tCg>tTg	p.S227L		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	227					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGACACCTCGTCACCAGTC	0.552000														107			211		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639558	7639558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7639558G>A	uc001qsz.3	-	8	2203	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	CD163_uc001qta.3_Missense_Mutation_p.S692L|CD163_uc009zfw.2_Missense_Mutation_p.S725L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	692					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S692*(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAATTGCACGAGGACAGTGT	0.438000														52			35		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243892	103243892	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:103243892G>A	uc022ajr.1	-	23	3352	c.3192C>T	c.(3190-3192)gcC>gcT	p.A1064A	RELN_uc022ajq.1_Silent_p.A1064A|RELN_uc010liz.3_Silent_p.A1064A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1064					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)		TGGACGGAAGGGCAGCTTCTG	0.512000														58			93		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143412150	143412150	+	Splice_Site	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:143412150C>G	uc003evn.3	-	5	743	c.534_splice	c.e5-1	p.G178_splice	SLC9A9_uc011bnk.2_Splice_Site_p.G52_splice	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	178					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATAATTAACCTGTTGAAGAG	0.368000														29			29		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917299	108917299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:108917299G>A	uc002tdy.3	+	3	736	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SULT1C2_uc010ywp.1_Intron|SULT1C2_uc010ywq.2_Missense_Mutation_p.E109K|SULT1C2_uc002tdx.3_Intron	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	95					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E95K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TAAAGGTGTGGAAAAAGCCAA	0.488000														75			36		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088177	9088177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9088177C>T	uc002mkp.3	-	0	3842	c.3638G>A	c.(3637-3639)gGa>gAa	p.G1213E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1213	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						GGTGCTTTTTCCTATGGCACC	0.488000														122			93		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888096	3888096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:3888096G>A	uc003bpt.4	+	1	2532	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.D591N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	591	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCCTTCCACAGATTATGAAGT	0.458000														146			122		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955749	51955749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51955749C>T	uc002pwt.3	-	6	1451	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	SIGLEC8_uc010yda.2_Missense_Mutation_p.G353R|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.G369R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	462					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCTCCTGTCCCTGCGGGTCC	0.557000														39			57		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292522	62292522	+	Missense_Mutation	SNP	G	A	A	rs150068835		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:62292522G>A	uc001ntl.3	-	4	9667	c.9367C>T	c.(9367-9369)Cct>Tct	p.P3123S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3123					nervous system development	nucleus	protein binding	p.P3123S(2)		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)				TCCACGTCAGGAACTTTCATG	0.458000														175			129		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991788	85991788	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:85991788C>T	uc001kcz.1	-	3	1789	c.1767G>A	c.(1765-1767)cgG>cgA	p.R589R		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	589						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGACACTGTGCCGGGACAGCT	0.557000														23			13		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:185229341C>T	uc003fpm.3	-	8	1349	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_uc010hyh.3_Missense_Mutation_p.M379I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.R412Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000														62			38		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698897	79698897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:79698897C>T	uc022bzm.1	+	0	859	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	FAM46D_uc004edl.1_Missense_Mutation_p.H287Y|FAM46D_uc004edm.2_Missense_Mutation_p.H287Y	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	287										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CCTCCACAACCATTTCATAGG	0.353000														0			62		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103356006	103356006	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:103356006C>T	uc001dum.3	-	58	4710	c.4392_splice	c.e58+1	p.K1464_splice	COL11A1_uc001duk.3_Splice_Site_p.K648_splice|COL11A1_uc001dul.3_Splice_Site_p.K1452_splice|COL11A1_uc001dun.3_Splice_Site_p.K1413_splice|COL11A1_uc009weh.3_Splice_Site_p.K1336_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1452	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTATTCTCACCTTTTCACCC	0.333000														14			8		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008221	32008221	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:32008221G>A	uc003nze.2	+	7	1085	c.978G>A	c.(976-978)ctG>ctA	p.L326L	CYP21A2_uc003nzf.2_Silent_p.L296L	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	325					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						ACCACGAACTGGGCCCTGGTG	0.677000														50			33		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142720	177142720	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:177142720G>A	uc003iuq.2	-	3	530	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ASB5_uc003iup.2_Missense_Mutation_p.P86L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	139					intracellular signal transduction			p.T138T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTTGAATAACGGAGTCACGCC	0.463000														34			24		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882446	78882446	+	Missense_Mutation	SNP	C	T	T	rs61742337		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:78882446C>T	uc002bdy.3	+	4	913	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	238					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P238Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGCTGGTATCCGTATGTCACT	0.408000														61			55		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058495	79058495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:79058495G>A	uc002bej.4	-	18	3969	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1253					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCAGGACTAGGAGAGGAGTG	0.667000														24			25		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049657	107049657	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:107049657A>G	uc010ywi.1	-	15	2347	c.2290T>C	c.(2290-2292)Tat>Cat	p.Y764H		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	764					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTTTTATAGAGAGGACCT	0.373000														262			136		0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775223	73775224	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:73775223_73775224GG>AA	uc002jpl.3	-	1	165_166	c.32_33CC>TT	c.(31-33)tcc>tTT	p.S11F		NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	11					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		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)			TCCCACCGGTGGACTTACGAGC	0.634000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			29		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22301256	22301256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:22301256C>T	uc001mqi.2	+	21	3004	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V	ANO5_uc001mqj.2_Missense_Mutation_p.A895V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	896						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATGAATTTGCCAAGCATGTC	0.363000														28			24		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84574020	84574020	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:84574020A>T	uc003pkf.3	+	1	334	c.202A>T	c.(202-204)Aaa>Taa	p.K68*		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	68	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ACACAACAAAAAAGATGATTG	0.343000														3			42		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687228	158687228	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:158687228C>T	uc021pbn.1	-	0	678	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F226F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGAGGGAATCCTCAATATCA	0.443000														54			34		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883811	63883811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:63883811G>A	uc021qks.1	+	0	72	c.72G>A	c.(70-72)atG>atA	p.M24I	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.M24I	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	0	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ccgttgtgatgaccacggcca	0.677000														14			9		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95950777	95950777	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:95950777C>T	uc002suk.3	+	14	1922	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	PROM2_uc002suh.2_Silent_p.L597L|PROM2_uc002sui.3_Silent_p.L597L|PROM2_uc002suj.3_Silent_p.L251L|PROM2_uc002sul.3_Silent_p.L123L|PROM2_uc002sum.3_Intron	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	597						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGCCTGGACCTGCTGAGCTC	0.632000														18			10		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917789	29917789	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:29917789G>A	uc002rmy.3	-	2	1831	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	293	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTCGGAGGGGATGCGGCGCC	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					71			144		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743843	81743843	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:81743843G>A	uc010tvu.2	-	3	2010	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	STON2_uc001xvk.1_Silent_p.F604F|STON2_uc010tvt.2_Silent_p.F401F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	604	MHD.				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)		GCCCAGACAGGAAACTCAGGA	0.507000														71			43		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554563	11554563	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:11554563C>T	uc002gne.3	+	12	2343	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	DNAH9_uc010coo.3_Missense_Mutation_p.P53S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	759	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTGGAATTTCCATTAGTGGA	0.453000														3			42		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166824	19166824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:19166824G>A	uc001bba.1	-	5	1790	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	597					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)	CCAGCCGAGCGAACTATGGGT	0.647000														71			44		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696524	49696524	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:49696524C>T	uc021zai.1	-	7	814	c.726G>A	c.(724-726)ttG>ttA	p.L242L	CRISP3_uc003ozs.3_Silent_p.L232L	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	219					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATGTGAGCTTCAAACTTTTAC	0.363000														86			36		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106668	168106668	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:168106668G>A	uc002udx.3	+	8	8855	c.8766G>A	c.(8764-8766)caG>caA	p.Q2922Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q2747Q|XIRP2_uc010fpq.3_Silent_p.Q2700Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2747					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						AGATTACACAGAACAAATCTT	0.373000														76			27		0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89701595	89701595	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:89701595A>G	uc003kjo.3	-	2	300	c.175T>C	c.(175-177)Ttt>Ctt	p.F59L		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	59	EF-hand 1.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTACATCAAACCCCAAGGCT	0.313000														26			21		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672701	10672701	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:10672701G>A	uc002kos.2	-	50	8166	c.7992C>T	c.(7990-7992)ttC>ttT	p.F2664F	PIEZO2_uc002koq.3_Silent_p.F456F	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2664						integral to membrane	ion channel activity										AGCCAGCCAGGAACCCCAGAC	0.453000														87			77		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509883	26509883	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:26509883T>C	uc001bln.4	+	7	789	c.731T>C	c.(730-732)gTc>gCc	p.V244A	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.V244A|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	244	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GACGAGGTTGTCCAGATCAAC	0.627000														29			33		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152597	166152597	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:166152597G>A	uc002udc.3	+	1	554	c.264G>A	c.(262-264)aaG>aaA	p.K88K	SCN2A_uc002udd.3_Silent_p.K88K|SCN2A_uc002ude.3_Silent_p.K88K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	88					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATATCAATAAGAAAGTGAGTT	0.463000														30			23		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031983	104031983	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:104031983C>T	uc001tjw.3	+	7	1085	c.899C>T	c.(898-900)cCt>cTt	p.P300L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	300					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						TATGATGGGCCTGGACAGGTG	0.478000														22			16		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:91358040G>A	uc001tbk.3	-	6	955	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363000														32			32		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359492	71359492	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:71359492G>A	uc011mqa.2	+	5	2094	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	NHSL2_uc004eak.1_Silent_p.E332E|NHSL2_uc010nli.2_Silent_p.E467E	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	698										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGGCCAGGGAGATATCATCCC	0.582000														1			36		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601157	31601157	+	Splice_Site	SNP	C	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:31601157C>G	uc003nvb.4	+	17	4569	c.4320_splice	c.e17-1	p.S1440_splice	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Splice_Site_p.S1440_splice	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1440	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTCTCCAGTCGTCCTCCAGA	0.532000														115			36		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626632	142626632	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:142626632C>T	uc003wby.1	-	3	642	c.378G>A	c.(376-378)gtG>gtA	p.V126V	TRPV5_uc003wbz.3_Silent_p.V126V	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	126					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATTCTGGTTCACAACAGCGA	0.622000														101			131		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77844493	77844493	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:77844493G>A	uc021rks.1	-	5	1393	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATAGATAAAGAAAAAATCCA	0.333000														22			16		0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	738454	738454	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:738454A>G	uc003zgl.1	+	11	4152	c.3503A>G	c.(3502-3504)tAc>tGc	p.Y1168C	KANK1_uc003zgn.1_Missense_Mutation_p.Y1168C|KANK1_uc003zgs.1_Missense_Mutation_p.Y1010C|KANK1_uc010mgx.1_Missense_Mutation_p.Y146C|KANK1_uc010mgy.1_Missense_Mutation_p.Y80C|KANK1_uc003zgt.1_Missense_Mutation_p.Y80C	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1168					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCCTCCATTACAGCGTGTCC	0.527000														6			76		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414272	19414272	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:19414272C>T	uc010tcj.1	-	0		c.31838G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTGTTTTTTCTTCATTTTCT	0.284000														13			4		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637395	248637395	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248637395C>T	uc001iel.1	+	0	744	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCCTCCCACATGATCA	0.557000														426			83		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176531	57176531	+	Silent	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57176531T>G	uc010ygn.2	-	1	263	c.36A>C	c.(34-36)gcA>gcC	p.A12A		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCCAACTCTGCGCCCTGGA	0.562000														19			19		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142654936	142654936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:142654936G>A	uc003wcb.3	-	5	860	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	217					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGTGTGTGGAGAGGCAGGATG	0.507000														123			46		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73879481	73879481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:73879481C>T	uc001ouu.2	-	1	460	c.233G>A	c.(232-234)aGg>aAg	p.R78K	PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Missense_Mutation_p.R78K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	78						centrosome		p.R78>?(3)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAATGCATCCCTGGGACAAAA	0.438000														34			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883132	13883132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13883132G>A	uc003jfd.2	-	19	3097	c.3055C>T	c.(3055-3057)Ccc>Tcc	p.P1019S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1019	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)					ACGATGTTGGGAATGGCCAGA	0.517000									Kartagener syndrome					112			92		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87666250	87666250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87666250G>A	uc003ydx.3	-	6	941	c.893C>T	c.(892-894)aCa>aTa	p.T298I	CNGB3_uc010maj.3_Missense_Mutation_p.T160I	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	298			T -> P (in dbSNP:rs4961206).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGAAATTTTGTAGAAGTCCT	0.299000														137			25		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899458	156899458	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:156899458G>A	uc003lwx.4	+	5	1007	c.891G>A	c.(889-891)ggG>ggA	p.G297G	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.G278G	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	297			G -> R (in ARCII).			integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTGTGATCGGGGCCTTCTCTG	0.557000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			77		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74902174	74902174	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:74902174C>T	uc002jti.3	+	6	1066	c.963C>T	c.(961-963)ccC>ccT	p.P321P	MGAT5B_uc002jth.3_Silent_p.P310P	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	310						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						AGGGCGGGCCCCTAGGGGAGA	0.642000														78			45		0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49462839	49462839	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:49462839A>G	uc001rtc.1	-	1	310	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	RHEBL1_uc001rtd.1_Missense_Mutation_p.Y31H|RHEBL1_uc009zlc.1_Non-coding_Transcript	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Homo sapiens Ras homolog enriched in brain like 1 (RHEBL1), mRNA.	35					TOR signaling cascade|positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						GTAGGATCGTAGCCTTCCGAG	0.498000														97			103		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241983	87241983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87241983G>A	uc003ydq.1	-	0	622	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC7A13_uc003ydr.1_Missense_Mutation_p.S175F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	175						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAGTTAGGGAAATGAAGCT	0.408000														157			44		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823320	54823320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54823320C>T	uc002qfe.3	-	3	343	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	LILRA5_uc002qff.3_Missense_Mutation_p.E63K|LILRA5_uc010yev.2_Missense_Mutation_p.E75K|LILRA5_uc010yew.2_Missense_Mutation_p.E63K|LILRA5_uc002qfg.1_Missense_Mutation_p.E75K|LILRA5_uc002qfh.1_Missense_Mutation_p.E63K	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	75	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACGGTATTCCTGGGCCTCC	0.592000														55			70		0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061560	49061560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:49061560G>A	uc001rrz.2	-	5	1482	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	KANSL2_uc001rrw.2_Missense_Mutation_p.R102C|KANSL2_uc001rrx.2_Missense_Mutation_p.R297C|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	297																	TGACTGGAACGAGTGGTATGG	0.408000														66			60		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57756640	57756640	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:57756640C>T	uc009vzx.1	-	1	383	c.63G>A	c.(61-63)aaG>aaA	p.K21K	DAB1_uc001cyt.1_Silent_p.K21K|DAB1_uc001cyq.1_Silent_p.K21K|DAB1_uc001cyr.1_Silent_p.K21K|DAB1_uc009vzw.1_Silent_p.K21K|DAB1_uc001cys.1_Silent_p.K21K	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	21					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCTACCTTTCTTTCTGGAGT	0.388000														36			23		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														102			70		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505695	130505695	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:130505695G>A	uc003qbw.3	-	5	785	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SAMD3_uc003qbx.3_Missense_Mutation_p.P153S|SAMD3_uc010kfg.1_Missense_Mutation_p.P153S|SAMD3_uc003qby.3_Missense_Mutation_p.P153S|SAMD3_uc003qbz.1_Missense_Mutation_p.P112S	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	153										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACATCATAGGGAAACTCTGGT	0.403000														1			23		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600528	31600528	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:31600528C>T	uc003akb.3	+	6	735	c.535C>T	c.(535-537)Cta>Tta	p.L179L	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Silent_p.L117L|RNF185_uc003akc.3_Silent_p.L117L|RNF185_uc003ake.3_Silent_p.L123L	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	179						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						ACGCCTCTTCCTATTTGTGGC	0.562000														82			52		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049417	36049417	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:36049417G>A	uc003jjz.2	-	3	549	c.417C>T	c.(415-417)ttC>ttT	p.F139F	UGT3A2_uc011cos.2_Silent_p.F105F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	139						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)			TCACCATGTCGAAGTTCTCAT	0.368000														26			20		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057725	63057725	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:63057725T>A	uc009yor.3	+	0	296	c.88T>A	c.(88-90)Tta>Ata	p.L30I	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	30						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTCTCATGTTATTAATCCC	0.443000														40			22		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884296	228884296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228884296C>T	uc002vpq.2	-	6	1321	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G425E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G425E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	425			G -> R (in dbSNP:rs4283414).			cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGAGAACTTCCTACAGAAAC	0.448000														78			23		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991060	21991060	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:21991060G>A	uc001wbe.3	-	1	3084	c.2802C>T	c.(2800-2802)ccC>ccT	p.P934P	SALL2_uc010tly.2_Silent_p.P932P|SALL2_uc010tlz.1_Silent_p.P797P|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.P799P|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	934							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)		GCCCCTCCTTGGGGTGGGTCT	0.597000														40			29		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308833	176308833	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:176308833G>A	uc003mfa.3	-	16	2345	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	HK3_uc003mez.3_Silent_p.I307I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	751	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATGCCGCTGATCATCTTTT	0.592000														34			23		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819207	20819207	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:20819207G>A	uc002zsl.2	-	3	1207	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	KLHL22_uc011ahr.2_Silent_p.F207F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	350					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTATACGAAGTTGTTGA	0.552000														94			81		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231170	7231170	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:7231170G>A	uc010wzk.2	+	0	34	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	12										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						CAGCTCCAAGGATAAGGGCCC	0.617000														40			24		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96104250	96104250	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:96104250C>T	uc001tei.3	-	4	1598	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	NTN4_uc009ztf.3_Silent_p.R383R|NTN4_uc009ztg.3_Silent_p.R346R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	383	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGAAGGGTCTCCGCAGGTCAC	0.478000														20			12		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805451	55805451	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55805451C>T	uc002qkf.3	+	6	700	c.573C>T	c.(571-573)ttC>ttT	p.F191F	BRSK1_uc021vbs.1_Silent_p.F175F|BRSK1_uc002qkg.3_Silent_p.F175F	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	175	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TTGCAGACTTCGGCATGGCGT	0.607000														180			143		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41061770G>A	uc003jmj.4	-	5	1007	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	HEATR7B2_uc021xxt.1_Missense_Mutation_p.P173S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	173							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTGGGGTAGGGAAAATCTCTC	0.448000														47			51		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574635	10574635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10574635C>T	uc002moj.2	+	13	2018	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	PDE4A_uc021uow.1_Missense_Mutation_p.S615F|PDE4A_uc002mok.2_Missense_Mutation_p.S611F|PDE4A_uc002mol.2_Missense_Mutation_p.S576F|PDE4A_uc002mom.2_Missense_Mutation_p.S398F|PDE4A_uc002moo.2_Missense_Mutation_p.S303F	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	637	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CACACTGCCTCCGTGGAGAAG	0.612000														34			24		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478074	88478074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:88478074G>A	uc021rxh.1	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	GPR65_uc001xvv.3_Missense_Mutation_p.E295K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	295					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTGTAACCGAAACAGGAAG	0.353000														29			23		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525589	24525589	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24525589C>T	uc001wlj.2	+	10	1009	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	284								p.P284P(2)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCACAACCCCATCGAGGACA	0.612000														29			27		0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104843	11104843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:11104843C>T	uc003mzt.3	-	1	1183	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R234Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	234						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						aagagaatttcgagttTGGTC	0.463000														19			29		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066500	73066500	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:73066500G>A	uc004ebm.1	-	0		c.6089C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGCTGGAAGGGAAAAGTGGGG	0.473000														3			24		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10483223	10483223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:10483223G>A	uc001min.1	+	1	529	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.E53K|AMPD3_uc001mio.1_Missense_Mutation_p.E53K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E60K|AMPD3_uc009yfy.2_Missense_Mutation_p.E53K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	53					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CGGGCAAAAGGAAGCCAAGGA	0.547000														16			13		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128715270	128715270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:128715270G>A	uc003ifm.3	+	1	399	c.146G>A	c.(145-147)gGa>gAa	p.G49E	HSPA4L_uc010iny.1_Missense_Mutation_p.G49E|HSPA4L_uc011cgr.2_Missense_Mutation_p.G16E	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	49					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CGAGCCATTGGAAATGCAGCA	0.328000														87			68		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56344834G>A	uc001niz.1	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000														52			49		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330060	34330060	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:34330060C>T	uc021oky.1	+	0	268	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.P90S|HMGB4_uc001bxq.3_Missense_Mutation_p.P16S	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	90						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAGCGGGATCCCCAGGAACC	0.522000														80			51		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581413	232581413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:232581413G>A	uc001hvg.3	-	8	3373	c.3215C>T	c.(3214-3216)cCt>cTt	p.P1072L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.P146L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1072					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGCAGGGCAGGAGTGGGCAC	0.647000														97			39		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14881916	14881916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:14881916G>A	uc001inf.3	+	1	211	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.3_5'UTR|HSPA14_uc001ine.3_Missense_Mutation_p.G24S|HSPA14_uc010qbw.2_Missense_Mutation_p.G24S	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	24					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGGCCGGGCTGGTGTGGTTGC	0.448000														91			81		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:37780794G>A	uc003tfm.1	+	0	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	267						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000														53			83		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526402	31526403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:31526402_31526403GG>AA	uc003jhg.2	-	3	996_997	c.637_638CC>TT	c.(637-639)cca>TTa	p.P213L	DROSHA_uc003jhh.2_Missense_Mutation_p.P213L|DROSHA_uc003jhi.2_Missense_Mutation_p.P213L|DROSHA_uc010iui.1_Missense_Mutation_p.P204L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	213					RNA processing|gene silencing by RNA|ribosome biogenesis	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						GGGAGCCTTTGGGAGTGGGTAT	0.510000														31			23		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809822	215809822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:215809822G>A	uc002vew.3	-	48	7466	c.7246C>T	c.(7246-7248)Ccg>Tcg	p.P2416S	ABCA12_uc002vev.3_Missense_Mutation_p.P2098S|ABCA12_uc010zjn.2_Missense_Mutation_p.P1343S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2416	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGAGCTCGGCTCATCCTTA	0.373000														15			34		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91851333	91851333	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:91851333C>A	uc001doa.4	-	4	652	c.553G>T	c.(553-555)Gac>Tac	p.D185Y	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.D185Y	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	185							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTGAGAGTCCAATTCATTG	0.318000														21			24		2.44723e-14	2.46858e-14	1	1	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:107845215C>T	uc003hyi.3	-	3	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	226	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000														65			93		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505846	6505846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6505846C>T	uc001amy.3	+	6	1483	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	ESPN_uc001amz.3_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	439	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		cagcttccccccgccaccccc	0.667000														11			11		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802211	43802211	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:43802211G>A	uc002zbb.2	-	8	1116	c.915C>T	c.(913-915)atC>atT	p.I305I	TMPRSS3_uc002zay.2_Silent_p.I63I|TMPRSS3_uc002zaz.2_Silent_p.I178I|TMPRSS3_uc002zba.2_Silent_p.I178I|TMPRSS3_uc002zbc.2_Silent_p.I305I|TMPRSS3_uc002zbd.3_Silent_p.I305I	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	305	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCATAAGGGCGATGTCATTGC	0.507000														62			45		0	0	1	0	0
MYOD1	4654	broad.mit.edu	37	11	17741748	17741748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:17741748C>T	uc001mni.3	+	0	639	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	140	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TCGAGCAATCCAAACCAGCGG	0.662000														17			21		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45750926	45750926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:45750926C>T	uc003bgc.3	-	19	3083	c.3031G>A	c.(3031-3033)Gat>Aat	p.D1011N	SMC1B_uc003bgd.3_Missense_Mutation_p.D1011N	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1011					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGTAAGATATCTTCCTGGGAT	0.453000														71			68		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802465	185802465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185802465C>T	uc002uph.3	+	3	2936	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	781						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTTATTCTTCAGATGAAAGT	0.373000														28			45		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361417	107361417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:107361417G>A	uc011lvp.2	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCCAGAAAGGGAAATGGTCTT	0.517000														141			24		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207619911	207619911	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:207619911C>T	uc002vbs.3	-	4	787	c.732G>A	c.(730-732)gaG>gaA	p.E244E	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.E244E|MDH1B_uc021vvm.1_Silent_p.E146E	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	244					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAGCATTTTTCTCTATCAGGT	0.507000														30			65		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044266	55044266	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55044266C>T	uc010yfa.1	+	1		c.145C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCCTAGGATTCTGCCTGAACC	0.483000														42			45		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157065572	157065572	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:157065572G>A	uc003lxb.1	-	3	1888	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.P211S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	516					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.G515W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTGGGAAGGCCCAGTAAAG	0.542000														41			26		0	0	1	0	0
CSDAP1	440359	broad.mit.edu	37	16	31580398	31580398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:31580398C>T	uc010vfr.1	-	0	448	c.421G>A	c.(421-423)Gag>Aag	p.E141K						Homo sapiens cold shock domain protein A pseudogene 1 (CSDAP1), non-coding RNA.																		ACATCAAACTCTACAGTTTCT	0.488000														48			19		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803412	20803412	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:20803412G>A	uc001reh.2	+	13	2843	c.2803G>A	c.(2803-2805)Gaa>Aaa	p.E935K	PDE3A_uc021qwa.1_Missense_Mutation_p.E613K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	935	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGGACCAATGAAAATGATCG	0.318000														66			20		0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86399665	86399666	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:86399665_86399666GG>AA	uc004amy.3	-	5	1022_1023	c.526_527CC>TT	c.(526-528)cct>TTt	p.P176F	GKAP1_uc004amz.3_Missense_Mutation_p.P176F|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	176					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TACTGTGAGAGGTCTGTCTTTT	0.297000														128			34		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587447	247587447	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:247587447C>T	uc001icr.3	+	4	840	c.702C>T	c.(700-702)atC>atT	p.I234I	NLRP3_uc001ics.3_Silent_p.I234I|NLRP3_uc001icu.3_Silent_p.I234I|NLRP3_uc001icw.3_Silent_p.I234I|NLRP3_uc001icv.3_Silent_p.I234I|NLRP3_uc010pyw.2_Silent_p.I232I|NLRP3_uc001ict.1_Silent_p.I232I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	234	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGAAAACAATCCTGGCCAGGA	0.532000														70			31		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41101199	41101199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:41101199G>A	uc002xkg.3	-	7	1341	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PTPRT_uc010ggj.3_Missense_Mutation_p.P386L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	386	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCATGTACCGGATCTGCAAA	0.557000														29			18		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665925	20665925	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20665925C>T	uc010tlb.2	+	0	431	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTTCTTCTCCTTGGGCTCT	0.493000														17			19		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70932725	70932725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:70932725G>A	uc001swb.4	-	24	5224	c.5194C>T	c.(5194-5196)Cga>Tga	p.R1732*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R1642*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R1642*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R1950*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R1862*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1732	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1732*(2)|p.R1950*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTTGTATCGATTTTTCCCT	0.383000														22			6		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037992	14037992	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:14037992C>T	uc002mxo.2	+	21	2529	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	CC2D1A_uc002mxp.2_Silent_p.L744L|CC2D1A_uc010dzh.2_Silent_p.L313L|CC2D1A_uc002mxq.1_3'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	744	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACAGGGGGCTGTTCAAGAC	0.602000														100			82		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357610	67357610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:67357610G>A	uc003xwb.4	+	5	545	c.511G>A	c.(511-513)Gga>Aga	p.G171R	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.G123R|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Intron|ADHFE1_uc011les.2_Missense_Mutation_p.G101R|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	171					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.P170P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATTGGCAAGGGAAAGCCTGT	0.438000														337			99		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266317	124266317	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:124266317C>T	uc001lgj.2	+	3	1016	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	296	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCACCGGGATCGTGAGCACCA	0.617000														109			45		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161513140	161513140	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:161513140G>A	uc003qtn.3	+	12	3376	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	MAP3K4_uc010kkc.1_Silent_p.L1078L|MAP3K4_uc003qto.3_Silent_p.L1078L|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Silent_p.L531L|MAP3K4_uc003qtp.3_Silent_p.L68L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1078					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTATGTCCTGACTAAATGTG	0.398000														16			167		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151782	3151782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:3151782G>A	uc002klp.3	-	11	2087	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	MYOM1_uc002klq.3_Nonsense_Mutation_p.R585*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	585	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCACAGCTCGAACTCGGAAG	0.488000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			42		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556620	29556620	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:29556620G>A	uc003nmr.1	+	0	938	c.899G>A	c.(898-900)aGg>aAg	p.R300K	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	300					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGGCATTCAGGAGATTGCTG	0.473000														29			53		0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126060	19126060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:19126060C>T	uc002dfu.4	+	0	807	c.277C>T	c.(277-279)Cga>Tga	p.R93*	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGACACTTCCGAGAGCCGGG	0.662000														20			14		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302143	128302143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:128302143G>A	uc003kuy.3	+	1	709	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	SLC27A6_uc003kuz.3_Missense_Mutation_p.G105R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	105					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTGAAAAAGGGGGACACGGT	0.532000														13			23		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091193	32091193	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:32091193C>T	uc003tcm.2	-	2	563	c.102_splice	c.e2-1	p.L34_splice	PDE1C_uc003tcn.1_Splice_Site_p.L34_splice|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Splice_Site_p.L34_splice|PDE1C_uc003tcs.3_Splice_Site_p.L34_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	34					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)			ATATTTCCTCCTGTAAGAAAA	0.463000														19			27		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:111957747G>A	uc001eba.3	-	10	1432	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	OVGP1_uc001eaz.3_Missense_Mutation_p.S421F|OVGP1_uc010owb.2_Missense_Mutation_p.S107F	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502000														53			36		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862971	116862971	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116862971C>T	uc003vin.3	+	15	1909	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	ST7_uc011knl.2_Silent_p.F542F|ST7_uc003vio.3_Intron|ST7_uc003viq.3_Intron|ST7_uc011knm.2_Intron|ST7_uc003vir.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	565						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATTTTCATGCGTGTTG	0.453000														101			152		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635677	122635677	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122635677G>A	uc003vkl.1	-	0	78	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	4					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGTGAGTTGGATGGGTATCA	0.453000														30			36		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272290	139272290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:139272290G>A	uc004chh.3	-	20	3998	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1330	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACCACCAGGGAGGTGGCCTT	0.697000														41			17		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073774	44073774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:44073774C>T	uc002ijr.4	+	9	1839	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	MAPT_uc010dau.3_Missense_Mutation_p.P524L|MAPT_uc002ijs.4_Missense_Mutation_p.P189L|MAPT_uc002ijx.4_Missense_Mutation_p.P160L|MAPT_uc021tyv.1_Missense_Mutation_p.P189L|MAPT_uc002ijt.4_Missense_Mutation_p.P131L|MAPT_uc021tyw.1_Missense_Mutation_p.P160L|MAPT_uc002iju.4_Missense_Mutation_p.P131L|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	506					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGTGAACCTCCAAAATCAGGG	0.677000														4			22		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240104	237240104	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:237240104C>T	uc002vwb.2	-	17	2329	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	IQCA1_uc002vvz.1_Silent_p.Q757Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.Q716Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	757							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCCGGATTCTCTGATCTGTGA	0.483000														193			69		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444088	82444088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:82444088C>T	uc002bgt.1	-	17	2876	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	EFTUD1_uc002bgu.1_Missense_Mutation_p.E852K	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	903					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTGTTCCTCAAATTTACTT	0.473000														44			28		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870151	51870151	+	Missense_Mutation	SNP	G	A	A	rs151179191	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:51870151G>A	uc002xwo.3	+	1	1041	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TSHZ2_uc021wex.1_Missense_Mutation_p.E49K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	52					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGGACGGACGAGGAGCTAGA	0.527000														29			15		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35094309	35094310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:35094309_35094310GG>AA	uc003zwd.3	-	2	954_955	c.558_559CC>TT	c.(556-561)ttccct>ttTTct	p.P187S	PIGO_uc003zwe.3_Missense_Mutation_p.P187S|PIGO_uc003zwf.3_Missense_Mutation_p.P187S|PIGO_uc003zwc.1_Missense_Mutation_p.P187S|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	187					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAAGCACCAGGGAAAAGGTCTT	0.500000														32			20		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218740	49218740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:49218740C>T	uc010zyt.2	-	12	1779	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E506K|FAM65C_uc002xvn.1_Missense_Mutation_p.E506K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	506										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						GGCCCGTCCTCTCTGTCCCCG	0.697000														9			14		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417062	62417063	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:62417062_62417063GG>AA	uc001nud.3	-	1	542_543	c.489_490CC>TT	c.(487-492)caccag>caTTag	p.Q164*	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	164					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGAACACGCTGGTGCTGGCCTG	0.554000														28			22		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458532	45458532	+	RNA	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:45458532G>A	uc001rol.3	-	0		c.663C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GGAGCCAATGGAACGAGTTTC	0.493000														17			12		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932941	61932941	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61932941C>T	uc001jky.3	-	18	2526	c.2188G>A	c.(2188-2190)Gga>Aga	p.G730R	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Missense_Mutation_p.G713R|ANK3_uc001jkz.4_Missense_Mutation_p.G724R|ANK3_uc001jlb.1_Missense_Mutation_p.G259R|ANK3_uc001jlc.1_Missense_Mutation_p.G391R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	730					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						GGTGTGTATCCCATCTGtaat	0.323000														21			21		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417795	9417795	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:9417795G>A	uc021wam.1	+	25	2739	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	PLCB4_uc010gbw.1_Silent_p.K908K|PLCB4_uc010gbx.3_Silent_p.K920K|PLCB4_uc021wal.1_Silent_p.K908K|PLCB4_uc002wnh.3_Silent_p.K755K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	908					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGAAGCCAAGAAAGGTGAGA	0.478000														17			15		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938579	47938579	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:47938579G>C	uc003gxu.3	-	9	2280	c.2139C>G	c.(2137-2139)atC>atG	p.I713M	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.I644M	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	644					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ACTCAGCCAAGATTCGGGCAA	0.418000														76			70		0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75250501	75250501	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:75250501G>A	uc003hie.1	+	4	652	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	162					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.S161L(1)|p.G162V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TTACCTCAGGGGATCCAGAGT	0.378000														39			36		0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89325691	89325691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89325691G>A	uc001dmo.4	-	4	528	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	137					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.R137*(2)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TTATTTGTTCGATCCTTCAAA	0.343000														64			29		0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956105	34956105	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:34956105C>T	uc002hnd.3	+	4	802	c.588C>T	c.(586-588)atC>atT	p.I196I	MRM1_uc002hne.3_5'Flank|MRM1_uc002hnf.3_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	196						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CCCAGTGCATCTCTCCAGGTG	0.592000														64			56		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610569	106610569	+	RNA	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:106610569C>T	uc021ser.1	-	1671		c.32002G>A								Parts of antibodies, mostly variable regions.																		AAGGGACCCCCCAGGCTTTAC	0.572000														74			54		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564839	40564839	+	Missense_Mutation	SNP	C	T	T	rs145812191		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:40564839C>T	uc010bbl.3	+	5	1713	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	PAK6_uc010bbm.3_Missense_Mutation_p.R425W|PAK6_uc001zky.4_Missense_Mutation_p.R425W|PAK6_uc010bbn.3_Missense_Mutation_p.R425W|PAK6_uc001zlb.3_Missense_Mutation_p.R425W	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	425	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCTTGGCCCGGGAGAAGCA	0.662000														0			17		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	T	T	rs142287236	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:13826628C>T	uc010xaf.2	+	0	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	288					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463000														71			85		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:41414529C>T	uc002yyq.1	-	31	5907	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1819					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGCGTGTTCGTAGGCCCTG	0.527000														45			44		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580515	50580515	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:50580515G>A	uc003bjj.3	+	15	2159	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	MOV10L1_uc003bjk.4_Silent_p.R692R|MOV10L1_uc011arp.2_Silent_p.R672R|MOV10L1_uc011arq.1_Silent_p.R453R|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	692					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCTAGAATAGGAAAACAATGA	0.438000														38			24		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873919	76873919	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:76873919A>T	uc001oyb.2	+	13	1847	c.1575A>T	c.(1573-1575)ttA>ttT	p.L525F	MYO7A_uc010rsl.2_Missense_Mutation_p.L525F|MYO7A_uc010rsm.1_Missense_Mutation_p.L514F|MYO7A_uc001oyc.2_Missense_Mutation_p.L525F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	525	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACCATGTTACACAAGCTGA	0.592000														83			68		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754504	76754504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:76754504C>T	uc002lmt.3	+	1	2513	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	SALL3_uc010dra.3_Missense_Mutation_p.S445F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGGTCATCTCCAGCATTGCC	0.667000														49			29		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234093124	234093124	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:234093124C>T	uc010zmo.2	+	18	2298	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	INPP5D_uc010zmp.2_Silent_p.S714S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	744					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			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)		AGACCAAGTCCCAGACCAAAT	0.527000														67			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084930	9084930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9084930C>T	uc002mkp.3	-	0	7089	c.6885G>A	c.(6883-6885)tgG>tgA	p.W2295*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D2294Y(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						CTGAACTCATCCAATCCCCAG	0.468000														15			22		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690735	6690735	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:6690735C>T	uc002mfm.3	-	26	3456	c.3394G>A	c.(3394-3396)Gga>Aga	p.G1132R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1132					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1132R(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTCCGTAATCCACCCTGAGAT	0.537000														21			7		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116032619	116032619	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:116032619G>A	uc001lbl.1	+	5	813	c.492G>A	c.(490-492)ggG>ggA	p.G164G	VWA2_uc001lbk.1_Silent_p.G164G|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	164	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTCCCAGGGGGATGTGGCAC	0.547000														43			63		0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124949030	124949030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:124949030C>T	uc010sau.2	+	4	588	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	SLC37A2_uc001qbn.3_Missense_Mutation_p.P113S	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	113					carbohydrate transport|transmembrane transport	integral to membrane		p.P113P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGAGCGGCTTCCGCTCCGTTA	0.547000														6			90		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685236	117685236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117685236C>T	uc001twn.2	-	18	3553	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	NOS1_uc021ren.1_Missense_Mutation_p.E578K|NOS1_uc021reo.1_Missense_Mutation_p.E578K|NOS1_uc001twm.2_Missense_Mutation_p.E914K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	914					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E914K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGATCCTCTCCCCTCCCAGT	0.557000														68			43		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558884	228558884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228558884C>T	uc009xez.1	+	93	20449	c.20405C>T	c.(20404-20406)cCa>cTa	p.P6802L	OBSCN_uc001hsr.1_Missense_Mutation_p.P1431L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6802					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				GAGCTCGCCCCATTTGCCCGG	0.692000														8			25		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009898	41009898	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41009898C>T	uc002ony.3	+	11	1610	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	SPTBN4_uc002onx.3_Silent_p.A508A|SPTBN4_uc002onz.3_Silent_p.A508A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	508					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGTGGCAGCCCAGCGTGACA	0.662000														28			37		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441113	10441113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10441113C>T	uc010coi.3	-	14	1584	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E486K|MYH2_uc010coj.3_Missense_Mutation_p.E486K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCAGTTTCTCATTGGTGAAG	0.413000														3			52		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51312530	51312530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51312530C>T	uc011bds.2	+	24	2592	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	857						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATCCTGCTTCCTGTGGTTCT	0.493000														138			102		0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147286014	147286014	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:147286014T>G	uc010jgp.3	-	0	88	c.51A>C	c.(49-51)ttA>ttC	p.L17F	C5orf46_uc003lou.3_Missense_Mutation_p.L17F|C5orf46_uc003lov.4_Missense_Mutation_p.L17F	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	17						extracellular region				NS(1)|lung(1)|prostate(1)	3						AGGTCAGGAATAAGACAAGCA	0.458000														36			27		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927266	36927266	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:36927266T>A	uc022abv.1	-	17	2323	c.1613A>T	c.(1612-1614)gAg>gTg	p.E538V	ELMO1_uc003tfi.2_Missense_Mutation_p.E58V|ELMO1_uc003tfj.2_Missense_Mutation_p.E58V|ELMO1_uc011kbb.2_Intron|ELMO1_uc011kbc.2_Missense_Mutation_p.E442V|ELMO1_uc003tfk.2_Missense_Mutation_p.E538V|ELMO1_uc010kxg.2_Missense_Mutation_p.E538V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	538					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTGAATCTTCTCCTTTAGTTC	0.507000														60			20		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144507	55144507	+	Silent	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55144507C>T	uc002qgj.3	+	7	1339	c.999C>T	c.(997-999)ggC>ggT	p.G333G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.G333G|LILRB1_uc002qgk.3_Silent_p.G333G|LILRB1_uc002qgm.3_Silent_p.G333G|LILRB1_uc010erq.3_Silent_p.G333G|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	333	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGCAGCCGGGCCCCACGGTGG	0.607000										HNSCC(37;0.09)				61			41		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124826482	124826482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:124826482G>A	uc021rga.1	-	33	5213	c.5096C>T	c.(5095-5097)tCg>tTg	p.S1699L	NCOR2_uc021rgb.1_Missense_Mutation_p.S1683L|NCOR2_uc010tbb.2_Missense_Mutation_p.S1692L|NCOR2_uc010tbc.2_Missense_Mutation_p.S1682L|NCOR2_uc021rgc.1_Missense_Mutation_p.S1682L|NCOR2_uc010tba.2_Missense_Mutation_p.S1700L|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1700					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|Notch binding|histone deacetylase 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)		CATCTGCTGCGAGGTGATGTA	0.652000														99			74		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377185	138377185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:138377185C>T	uc022bpi.1	+	0	829	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	PPP1R26_uc004cfr.1_Missense_Mutation_p.R277W	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	277						nucleolus	protein binding										GGTGGTGCATCGGCAGGGCCT	0.542000														73			156		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337344	19337344	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:19337344G>A	uc002nlz.3	+	6	1221	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	374					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATCCTCTGGGGATGAGGGGG	0.597000														42			34		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									67			42		0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645401	50645401	+	Silent	SNP	G	A	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:50645401G>A	uc010hlq.3	-	3	752	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CISH_uc003dax.3_Silent_p.F138F	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	138	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGTCCAGACGGAAGCTGGAGT	0.577000														38			30		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750558	141750558	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141750558A>T	uc003vwy.3	+	23	2753	c.2699A>T	c.(2698-2700)aAt>aTt	p.N900I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	900	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)	TTAGCATTTAATGAGATTAAA	0.378000														36			16		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614986	7614986	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:7614986C>T	uc010xjq.2	+	15	2069	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	PNPLA6_uc002mgq.2_Missense_Mutation_p.S562F|PNPLA6_uc010xjp.2_Missense_Mutation_p.S536F|PNPLA6_uc002mgr.2_Missense_Mutation_p.S562F|PNPLA6_uc002mgs.3_Missense_Mutation_p.S601F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	601					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCTCCAAGTCCGACTTCTAT	0.622000														88			61		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336291	52336291	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:52336291C>T	uc003xqu.4	-	14	1740	c.1639_splice	c.e14-1	p.E547_splice		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	547	Ig-like C2-type 4.				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)				TGCACACCTTCCTAGGGAGCA	0.398000														17			16		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109813099	109813099	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:109813099delT	uc001dxa.4	+	23	7421	c.7360delT	c.(7360-7362)tttfs	p.F2454fs		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2454					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTCTGCACCTTTTCCTGGGC	0.637													---	262	---	---	11	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:152083818_152083820delCGG	uc009wne.1	-	2	2145_2147	c.1873_1875delCCG	c.(1873-1875)ccgdel	p.P625del	TCHH_uc001ezp.2_In_Frame_Del_p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.680													---	173	---	---	7	---					
CMC1	152100	broad.mit.edu	37	3	28361066	28361066	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:28361066delA	uc003cea.3	+	3	428	c.267delA	c.(265-267)agafs	p.R89fs		NM_182523	NP_872329	Q7Z7K0	COXAM_HUMAN	Homo sapiens COX assembly mitochondrial protein homolog (S. cerevisiae) (CMC1), nuclear gene encoding mitochondrial protein, mRNA.	89						mitochondrion	metal ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						AAGAATTCAGAAAAACTGGAA	0.348													---	41	---	---	23	---					
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	TTC	TTC	rs146656804	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:10467629_10467630insTTC	uc003wtc.3	-	3	4207_4208	c.3978_3979insGAA	c.(3976-3981)insGAA	p.1326_1327insE		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1326					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.455													---	17	---	---	7	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	-	-	rs11270020		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.3	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zci.3_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	423						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													---	6	---	---	3	---					
TAS2R50	259296	broad.mit.edu	37	12	11139051	11139054	+	Frame_Shift_Del	DEL	AAGT	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:11139051_11139054delAAGT	uc001qzl.2	-	0	458_461	c.406_409delACTT	c.(406-411)actttgfs	p.T136fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	Homo sapiens taste receptor, type 2, member 50 (TAS2R50), mRNA.	136					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAAAATATCAAAGTCCCCAACAGT	0.377													---	166	---	---	119	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:112082051_112082052insC	uc001tsn.4	-	11	1924_1925	c.1730_1731insG	c.(1729-1731)ggcfs	p.G577fs	BRAP_uc010syh.2_Frame_Shift_Ins_p.G398fs|BRAP_uc009zvv.3_Frame_Shift_Ins_p.G547fs	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	577					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													---	47	---	---	30	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	331	---	---	7	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:62291438_62291440delTCC	uc002jed.3	-	1	289_291	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_uc002jec.3_In_Frame_Del_p.46_47EE>E|TEX2_uc002jee.3_In_Frame_Del_p.46_47EE>E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	46	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													---	128	---	---	7	---					
PHACTR3	116154	broad.mit.edu	37	20	58342249	58342249	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:58342249delC	uc002yau.3	+	4	1017	c.550delC	c.(550-552)cctfs	p.P184fs	PHACTR3_uc002yat.3_Frame_Shift_Del_p.P181fs|PHACTR3_uc010zzw.2_Frame_Shift_Del_p.P143fs|PHACTR3_uc002yav.3_Frame_Shift_Del_p.P143fs|PHACTR3_uc002yaw.3_Frame_Shift_Del_p.P143fs|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	184						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCCAAGATGCCTTCTGCATC	0.542													---	36	---	---	28	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													---	281	---	---	7	---					
AKAP17A	8227	broad.mit.edu	37	X	1719869	1719870	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:1719869_1719870insC	uc004cqa.3	+	4	1666_1667	c.1470_1471insC	c.(1468-1473)cagcccfs	p.Q490fs	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	490					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TCGGGGGCCAGCCCCCGGCCGG	0.733													---	4	---	---	2	---