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
XIRP2	129446	broad.mit.edu	37	2	168105435	168105435	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:168105435G>A	uc002udx.3	+	8	7622	c.7533G>A	c.(7531-7533)agG>agA	p.R2511R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.R2336R|XIRP2_uc010fpq.3_Silent_p.R2289R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2336					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						CAGCACCCAGGAAAAAACAGA	0.358000														82			18		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83419355	83419356	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:83419355_83419356CC>TT	uc004eej.2	-	1	157_158	c.121_122GG>AA	c.(121-123)gga>AAa	p.G41K	RPS6KA6_uc011mqt.2_Missense_Mutation_p.G41K|RPS6KA6_uc011mqu.2_5'UTR	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	41					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTGCTTCTCCCTCTTCCATT	0.312000														27			13		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409566	153409566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:153409566C>T	uc010pdx.2	-	2	385	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.G103*(1)|p.G92*(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTGCCACTCCATGCATTATC	0.468000														105			74		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080990	54080991	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:54080990_54080991GG>AA	uc021vhn.1	-	0	903_904	c.903_904CC>TT	c.(901-906)agccga>agTTga	p.R302*	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Nonsense_Mutation_p.R302*	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	302						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCTGGAGTCGGCTTGCTGCAG	0.535000														39			11		0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55806303	55806303	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:55806303G>A	uc002eik.3	+	4	605	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	CES1P1_uc010cce.3_Missense_Mutation_p.G52R					Homo sapiens carboxylesterase 1 pseudogene 1 (CES1P1), non-coding RNA.																		ACACAGCCCGGGGAACTGGGG	0.587000														15			3		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113563006	113563006	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:113563006C>T	uc022blv.1	+	14	2482	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.S694F|MUSK_uc022blu.1_Missense_Mutation_p.S684F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	783	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACTACAGAGTCTGATGTGTGG	0.498000														40			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21805148	21805148	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:21805148C>T	uc003svc.3	+	55	9095	c.9064C>T	c.(9064-9066)Ccg>Tcg	p.P3022S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3022	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATGCGTGGCCGCAGGAGGC	0.532000									Kartagener syndrome					49			48		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045723	119045723	+	Missense_Mutation	SNP	C	T	T	rs145673513	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:119045723C>T	uc001pvu.3	+	5	1626	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	NLRX1_uc010rzc.1_Missense_Mutation_p.R293W|NLRX1_uc001pvv.3_Missense_Mutation_p.R471W|NLRX1_uc001pvw.3_Missense_Mutation_p.R471W|NLRX1_uc001pvx.3_Missense_Mutation_p.R471W	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	471	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CATCTTCCGTCGGGATGCCCT	0.612000														38			16		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28101451	28101451	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:28101451C>T	uc009xky.3	-	19	3223	c.3125G>A	c.(3124-3126)aGa>aAa	p.R1042K	ARMC4_uc010qds.2_Missense_Mutation_p.D608N|ARMC4_uc010qdt.2_Missense_Mutation_p.R734K|ARMC4_uc001itz.3_Missense_Mutation_p.R1042K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1042							binding	p.A1041S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAAGTGTATCTTGCCTTCTC	0.458000														70			22		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61488210	61488210	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:61488210C>T	uc001nsa.3	+	2	271	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	52					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)		GAGGCCTGCTCCCTGAACCTG	0.642000														77			18		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000														31			11		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575901	52575901	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:52575901C>T	uc001jjj.3	-	8	1194	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	A1CF_uc010qho.2_Missense_Mutation_p.D344N|A1CF_uc010qhn.2_Missense_Mutation_p.D344N|A1CF_uc009xov.3_Missense_Mutation_p.D336N|A1CF_uc001jji.3_Missense_Mutation_p.D336N|A1CF_uc001jjh.3_Missense_Mutation_p.D344N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	336					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTGGTGGGATCATAAACTTGG	0.517000														46			11		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					80			112		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509004	102509004	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:102509004C>T	uc001yks.2	+	68	12596	c.12432C>T	c.(12430-12432)atC>atT	p.I4144I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4144	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGGCCGCATCTTTGTGTTCG	0.577000														44			15		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809604	18809604	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:18809604C>G	uc001bax.3	+	0	2181	c.2129C>G	c.(2128-2130)aCg>aGg	p.T710R	KLHDC7A_uc009vpg.3_Missense_Mutation_p.T492R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	710						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)		ACGTACCGGACGCCTTACCCG	0.647000														31			14		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138878606	138878606	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:138878606G>A	uc004faz.3	-	11	1140	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F347F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	347					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TAAATGATAGGAAGTCGGTGA	0.318000														29			30		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871743	13871743	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:13871743G>A	uc003jfd.2	-	22	3570	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1174fs*8(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)					CTAGGTTTTGGAAATAGAGAA	0.383000									Kartagener syndrome					46			20		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59760670	59760670	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:59760670G>A	uc002izk.2	-	19	4043	c.3737C>T	c.(3736-3738)cCt>cTt	p.P1246L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1246					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTAAAACCAGGAAACATGCC	0.279000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						54			18		0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144710343	144710343	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:144710343G>A	uc002tvp.3	-	9	1477	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	GTDC1_uc002tvo.3_Silent_p.F351F|GTDC1_uc021vqf.1_Missense_Mutation_p.P315S|GTDC1_uc010fnn.3_Missense_Mutation_p.P400S|GTDC1_uc002tvs.3_Missense_Mutation_p.P368S|GTDC1_uc021vqg.1_Missense_Mutation_p.P282S|GTDC1_uc002tvr.3_Missense_Mutation_p.P315S|GTDC1_uc010fno.3_Missense_Mutation_p.P271S	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	400					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAGCTACCTGGAAATATTTCG	0.323000														91			23		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710685	117710685	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:117710685G>A	uc003pxp.1	-	11	1786	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	529					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACATCCCACGATGAATTCAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									46			15		0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119207129	119207129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:119207129C>T	uc001pwh.3	+	0	1920	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	433							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAATGTCTACCTCTGAAGCCT	0.622000														49			15		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149869	167149869	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:167149869C>T	uc010fpl.3	-	8	1320	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.G198R|SCN9A_uc002uds.1_Missense_Mutation_p.G198R|SCN9A_uc002udt.1_Missense_Mutation_p.G198R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	327						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)	CAGGTGTACCCCTCTGGACAC	0.438000														16			12		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185678843	185678843	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:185678843G>A	uc003iww.2	-	19	2196	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	ACSL1_uc011ckm.1_Silent_p.I463I|ACSL1_uc003iwt.1_Silent_p.I634I|ACSL1_uc003iwu.1_Silent_p.I634I|ACSL1_uc011ckn.1_Silent_p.I600I|ACSL1_uc003iws.1_Silent_p.I194I	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	634					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TATCTTCGAGGATAGCTTTTT	0.373000														172			42		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130785942	130785942	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:130785942C>T	uc002tpy.1	-	0		c.3550G>A			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		GGCCTGCTGGCTGATGGCATT	0.483000														15			5		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88415938	88415938	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:88415938G>A	uc010qmk.1	+	1	398	c.171G>A	c.(169-171)tgG>tgA	p.W57*	OPN4_uc001kdp.3_Nonsense_Mutation_p.W57*|OPN4_uc001kdq.3_Nonsense_Mutation_p.W57*	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	57					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGCTGCCTGGGTCCCCCTCC	0.572000														44			24		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085524	35085524	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:35085524A>T	uc001ziu.1	-	2	619	c.376T>A	c.(376-378)Ttt>Att	p.F126I	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	126					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGGTCTCAAACATGATCTGA	0.592000														95			22		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67012497	67012497	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:67012497C>T	uc002jhu.3	-	21	3079	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q	ABCA9_uc010dez.3_Missense_Mutation_p.R979Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	979					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCAATTCAGCCGTTTTGTATT	0.348000														119			35		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182025717	182025717	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:182025717G>A	uc001goz.3	-	1	1637	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	ZNF648_uc021pfu.1_Missense_Mutation_p.P477S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGCGTGCAAGGAAAGGGCCTC	0.672000														10			13		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115263252	115263252	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:115263252A>C	uc001efi.3	-	17	2620	c.2098T>G	c.(2098-2100)Ttc>Gtc	p.F700V	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.F654V|CSDE1_uc001efm.3_Missense_Mutation_p.F669V|CSDE1_uc009wgv.3_Missense_Mutation_p.F654V|CSDE1_uc001efl.3_Missense_Mutation_p.F623V|CSDE1_uc001efn.3_Missense_Mutation_p.F623V	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	654	CSD 9.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CACAATTGGAACTTGACGCTC	0.498000														90			30		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875626	35875626	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:35875626C>T	uc003jjs.3	+	6	902	c.813C>T	c.(811-813)atC>atT	p.I271I	IL7R_uc011coo.2_Missense_Mutation_p.S240L|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	271					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)			TTAAGCCTATCGTATGGCCCA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							35			11		0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769665	3769665	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:3769665C>T	uc003ghm.3	+	0	1370	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	444					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCAGGATTTCCGGCGATCCT	0.607000														24			7		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123688	66123688	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:66123688C>T	uc002jgq.3	+	5		c.2811C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TGAGGCTATTCCAGCTCCCTT	0.562000														16			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062771	9062771	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9062771C>T	uc002mkp.3	-	2	24879	c.24675G>A	c.(24673-24675)tgG>tgA	p.W8225*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8227	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTTTCTACCCAGTTGGGTG	0.458000														24			14		0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055802	85055802	+	RNA	SNP	C	A	A	rs1727704		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:85055802C>A	uc002bkm.2	-	5		c.758G>T								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GCCTCTCCTCCTGTTCACGTA	0.552000														26			4		0.000602214	0.000606467	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248524980	248524980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:248524980C>T	uc001ieh.1	+	0	98	c.98C>T	c.(97-99)aCc>aTc	p.T33I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCCAATATCACCTGGATGGCC	0.483000														77			42		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121587439	121587439	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:121587439C>T	uc010mdg.3	-	3	1249	c.1023G>A	c.(1021-1023)tgG>tgA	p.W341*	SNTB1_uc003ype.3_Nonsense_Mutation_p.W341*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	341	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGGCTGGTTTCCACTGTTTCT	0.493000														152			40		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788670	113788670	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:113788670C>T	uc002tiq.1	-	2	180	c.76G>A	c.(76-78)Gga>Aga	p.G26R	IL36B_uc002tir.1_Missense_Mutation_p.G26R	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	26					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AAAGAATTTCCACTCAGGACC	0.483000														47			12		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48956337	48956337	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:48956337C>T	uc002rwu.4	-	2	333	c.263G>A	c.(262-264)aGg>aAg	p.R88K	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	88					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTTCTATCCTTTCCAGGGA	0.423000														88			36		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202272229	202272229	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:202272229G>A	uc002uyb.4	-	2	629	c.183C>T	c.(181-183)ctC>ctT	p.L61L	TRAK2_uc002uyc.2_Silent_p.L61L	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	61						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATAGAAAGAGAGTGTCTA	0.463000														90			21		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925383	133925383	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:133925383C>T	uc003ytw.3	+	19	4292	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F	TG_uc010mdw.3_Silent_p.F176F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAGACGTTCCCAGCGGAAA	0.547000														37			43		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339140	16339140	+	Silent	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:16339140A>T	uc021whl.1	-	0	1374	c.1374T>A	c.(1372-1374)gtT>gtA	p.V458V	NRIP1_uc002yjx.2_Silent_p.V458V	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	458	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATCCAGGGAAACAGGTTGGT	0.403000														100			21		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570208	136570208	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136570208C>T	uc002tuu.1	-	6	2037	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	676	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)		TCAGCAGAGCCTTTCAGGAGC	0.547000														55			25		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520203	83520203	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:83520203C>T	uc010vns.2	+	7	1308	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CDH13_uc002fgx.3_Silent_p.I301I|CDH13_uc010vnt.2_Silent_p.I47I|CDH13_uc010vnu.2_Silent_p.I262I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	301	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTTCTACATCGATCCTGAGA	0.488000														57			23		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118777	165118777	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:165118777C>T	uc011cjk.2	-	0	87	c.87G>A	c.(85-87)tcG>tcA	p.S29S	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	29										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TGCCTTCATTCGACCGACTGT	0.493000														155			52		0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	672496	672496	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:672496G>A	uc003gav.3	+	1	158	c.53G>A	c.(52-54)aGa>aAa	p.R18K	MYL5_uc003gat.3_Non-coding_Transcript|MYL5_uc003gau.3_Non-coding_Transcript	NM_002477	NP_002468	Q02045	MYL5_HUMAN	Homo sapiens myosin, light chain 5, regulatory (MYL5), mRNA.	18					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CGGGCCCAGAGAGCCTCATCC	0.607000														7			6		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189832	7189832	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:7189832C>T	uc002gfp.3	+	10	1614	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	SLC2A4_uc010cmd.3_Non-coding_Transcript	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	472					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAAACTCGAGGCCGGAC	0.542000														231			86		0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478951	141478951	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141478951G>T	uc003vwq.1	+	0	663	c.663G>T	c.(661-663)caG>caT	p.Q221H		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	221					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGAATCCCCAGACGGAAGCTC	0.433000														138			16		1.62849e-17	1.65873e-17	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54913092	54913092	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:54913092G>A	uc003dhf.3	+	18	1806	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.E492E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.E320E|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	586						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTCCATGGAGGTGAAGAAGA	0.353000														23			5		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015385	33015385	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:33015385G>A	uc001wrq.3	+	3	1696	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	AKAP6_uc010aml.3_Missense_Mutation_p.R506Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	509					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTCCATGCCGAACACCTAAA	0.453000														50			21		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68628086	68628086	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:68628086G>A	uc010bib.3	-	11	1461	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ITGA11_uc002ari.3_Silent_p.T458T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	458					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTTGTGCATGGTGAACAGGA	0.652000														23			9		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62298828	62298828	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:62298828C>T	uc021wge.1	+	6	791	c.621C>T	c.(619-621)tgC>tgT	p.C207C	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.C207C|RTEL1_uc011abd.2_Silent_p.C231C|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Silent_p.C257C|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	207	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGGGTGTGCCCTTACTACC	0.582000														187			33		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807852	8807852	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:8807852C>T	uc002mkl.2	-	0	1321	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	400						cytoplasm|cytoskeleton		p.R400Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGTACTGCTCCCGCAGGACCC	0.632000														85			35		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784092	9784092	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:9784092C>T	uc003gmb.4	+	0	835	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	147					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGGCCCTTCCGCTACAAGCG	0.597000														15			3		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010225	10010225	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:10010225G>A	uc001qwn.3	-	2	742	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	29						integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGAGAATCTCGAGTTAGTTTA	0.318000														24			12		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861750	14861750	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:14861750G>A	uc003bzc.3	+	0	1282	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	FGD5_uc011avk.2_Missense_Mutation_p.G391E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	391					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						CCCATGGTGGGGGCTTTGTGT	0.612000														29			11		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013766	9013766	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:9013766G>A	uc001quz.4	+	27	3473	c.3375G>A	c.(3373-3375)aaG>aaA	p.K1125K	A2ML1_uc001qva.1_Silent_p.K705K|A2ML1_uc010sgm.2_Silent_p.K625K	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	969						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGTGTCTCAAGAATTCGGCCA	0.448000														66			34		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059887	59059887	+	Silent	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:59059887A>C	uc002qtg.1	+	8	1540	c.1251A>C	c.(1249-1251)tcA>tcC	p.S417S	TRIM28_uc010eut.1_Silent_p.S335S|TRIM28_uc002qth.1_Silent_p.S40S	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	417					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCACTAACTCAACAGGCCCTG	0.587000														90			12		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954431	12954431	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:12954431C>T	uc001auo.3	-	2	925	c.852G>A	c.(850-852)ctG>ctA	p.L284L		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	284										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		GCAGGTGCTCCAGGTGCTCTT	0.443000														40			16		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740121	37740121	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:37740121G>A	uc004aag.1	+	14	1640	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	FRMPD1_uc004aah.1_Silent_p.V532V|FRMPD1_uc011lqm.2_Silent_p.V354V|FRMPD1_uc011lqn.2_Silent_p.V401V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	532						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCTGAGGTGGACTGCGTAC	0.547000														84			36		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661722	4661722	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:4661722C>T	uc010qyk.2	+	0	778	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	234					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)		ATATCCTCATCCTGTGGGCTG	0.512000														67			31		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335788	117335788	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117335788C>T	uc001prh.1	-	16	3317	c.3315G>A	c.(3313-3315)acG>acA	p.T1105T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1045	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)		CGCTGTCCCCCGTGGCCTTCA	0.612000														86			24		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704981	40704981	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:40704981C>T	uc001cfc.4	+	7	4638	c.4607C>T	c.(4606-4608)gCc>gTc	p.A1536V	RLF_uc001cfd.4_Missense_Mutation_p.A1227V	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1536					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGAGCTGAGGCCCTCCATATG	0.443000														67			21		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865809	139865809	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:139865809C>T	uc004fbg.1	-	0	915	c.723G>A	c.(721-723)tgG>tgA	p.W241*	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	241										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCAGTGTCTTCCAGAAAGAAA	0.423000														47			53		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779322	50779322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:50779322C>T	uc010enu.1	+	27	3589	c.3542C>T	c.(3541-3543)gCc>gTc	p.A1181V	MYH14_uc002prq.1_Missense_Mutation_p.A1148V|MYH14_uc002prr.1_Missense_Mutation_p.A1140V|MYH14_uc010ycb.2_5'Flank	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1140					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGCCGAGGCCCAGGAGGAC	0.701000														12			4		0	0	1	0	0
PRAMEF16	654348	broad.mit.edu	37	1	13497656	13497656	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:13497656G>A	uc001aux.3	+	2	983	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN	Homo sapiens PRAME family member 16 (PRAMEF16), mRNA.	318												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		CAGTACCCAAGCCTCAGTCAG	0.493000														86			19		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229353	24229353	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:24229353T>G	uc011mjv.2	+	9	2644	c.2395T>G	c.(2395-2397)Tca>Gca	p.S799A	ZFX_uc004dbd.2_Missense_Mutation_p.S760A|ZFX_uc004dbf.3_Missense_Mutation_p.S760A|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.S760A|ZFX_uc010nfx.2_Missense_Mutation_p.S531A|ZFX_uc010nfz.3_Missense_Mutation_p.S416A	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TACAGATGCCTCAGGCTTTAA	0.448000														79			64		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414783	46414783	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:46414783C>T	uc003cpo.4	+	2	512	c.390C>T	c.(388-390)gtC>gtT	p.V130V	CCR5_uc010hjd.3_Silent_p.V130V|CCR5_uc021wxb.1_Silent_p.V130V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	130					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478000														139			43		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369385	86369385	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:86369385C>T	uc001vll.1	-	1	1718	c.1259G>A	c.(1258-1260)gGt>gAt	p.G420D	SLITRK6_uc021rla.1_Missense_Mutation_p.G420D	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	420						integral to membrane		p.G420C(1)		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)		CAGGTGGTTACCATTTAGATA	0.353000														25			8		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118342713	118342713	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:118342713C>T	uc001pta.3	+	2	862	c.839C>T	c.(838-840)cCt>cTt	p.P280L	MLL_uc001ptb.3_Missense_Mutation_p.P280L|MLL_uc001psz.1_Missense_Mutation_p.P313L|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	280					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAACTCTCTCCTCTCAAGTCT	0.403000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									85			24		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:29038468G>A	uc002kws.3	+	3	386	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	93	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGGGAATCGATCAGCCGCC	0.443000														51			14		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318352	113318352	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:113318352G>A	uc003ynu.3	-	50	8114	c.7955C>T	c.(7954-7956)aCg>aTg	p.T2652M	CSMD3_uc003yns.3_Missense_Mutation_p.T1854M|CSMD3_uc003ynt.3_Missense_Mutation_p.T2612M|CSMD3_uc011lhx.2_Missense_Mutation_p.T2548M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2652	Sushi 15.					integral to membrane|plasma membrane		p.T2652R(2)		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						GGTAACTCGCGTTCCTACCAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				117			11		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120686958	120686958	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:120686958G>A	uc003vjq.4	+	3	898	c.451G>A	c.(451-453)Gat>Aat	p.D151N	C7orf58_uc003vjr.1_Missense_Mutation_p.D151N|C7orf58_uc003vjs.4_Missense_Mutation_p.D151N	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	151						endoplasmic reticulum		p.D151G(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGGCTCTTGGGATCTGCTCAT	0.333000														189			20		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271786	48271786	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48271786G>A	uc002iqm.3	-	22	1664	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	513	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)	AGGGCCAGGAGAACCACGTTC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							40			17		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45683229	45683229	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:45683229C>T	uc003bfy.3	+	2	412	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	129					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTCACAGATCCTGAATGCCTA	0.612000														30			6		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52986727	52986727	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:52986727C>T	uc001sar.2	-	2	737	c.651G>A	c.(649-651)gtG>gtA	p.V217V	KRT72_uc001saq.2_Silent_p.V217V|KRT72_uc010sns.1_Silent_p.V217V|KRT72_uc010snt.1_Silent_p.V29V	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	217	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTTAATCTCCACCTCATACC	0.527000														64			18		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316247	125316247	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125316247C>T	uc011lyx.2	+	0	799	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	267					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						GGTGGTTCTGCTCTTCTATGG	0.473000														74			25		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27529307	27529307	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:27529307A>T	uc001rht.2	+	3	532	c.313A>T	c.(313-315)Atg>Ttg	p.M105L	ARNTL2_uc001rhu.2_Intron|ARNTL2_uc001rhv.2_Intron|ARNTL2_uc001rhw.3_Intron|ARNTL2_uc010sjp.2_Intron|ARNTL2_uc009zji.2_Missense_Mutation_p.M71L	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	105					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCAAGTTAAAATGAAGGCCTT	0.398000														57			26		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	275031	275031	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:275031G>A	uc001qhw.2	+	10	2946	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	IQSEC3_uc001qhu.1_Silent_p.T679T	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	982	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGGTGACGGAGCTGGAGC	0.597000														33			10		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816727	6816727	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:6816727C>T	uc001mes.1	-	0	413	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATACCAGATCTCCAGAAAGG	0.438000														76			28		0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93691891	93691891	+	Splice_Site	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:93691891T>C	uc021opx.1	+	17	2337	c.2176_splice	c.e17-1	p.V726_splice	CCDC18_uc009wdl.1_Splice_Site_p.V361_splice	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	725										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCTGCTTAGGTTAGGCAACTA	0.299000														40			11		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80724181	80724181	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:80724181C>T	uc003pjc.3	+	10	1096	c.985_splice	c.e10-1	p.S329_splice	TTK_uc003pjb.4_Splice_Site_p.S329_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	329					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCATGTAGTCTGTTCAAAAT	0.308000														58			21		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43693447	43693447	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:43693447G>A	uc011aev.2	+	3	546	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	ABCG1_uc002zam.3_Missense_Mutation_p.G125S|ABCG1_uc002zan.3_Missense_Mutation_p.G149S|ABCG1_uc002zao.3_Missense_Mutation_p.G144S|ABCG1_uc002zap.3_Missense_Mutation_p.G147S|ABCG1_uc002zaq.3_Missense_Mutation_p.G147S|ABCG1_uc002zar.3_Missense_Mutation_p.G158S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	147	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCTCATCAACGGCCTGCCCCG	0.647000														80			32		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585618	82585618	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:82585618C>T	uc003uhx.2	-	4	4940	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K	PCLO_uc003uhv.2_Missense_Mutation_p.E1551K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1482					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						TCCTCCTCTTCCCCTGATCCT	0.413000														47			16		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178127	142178127	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:142178127C>G	uc003yvy.3	+	12	1816	c.1538C>G	c.(1537-1539)cCg>cGg	p.P513R	DENND3_uc010mep.3_Missense_Mutation_p.P474R|DENND3_uc003yvz.1_Missense_Mutation_p.P197R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	513								p.P513Q(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAAGTCCCCGTATACATTC	0.502000														204			51		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31227350	31227350	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:31227350C>G	uc001utc.2	+	7	1736	c.1304C>G	c.(1303-1305)gCa>gGa	p.A435G	USPL1_uc001utd.2_Missense_Mutation_p.A106G|USPL1_uc001ute.1_Missense_Mutation_p.A106G	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	435					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348000														148			37		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56583179	56583179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:56583179G>A	uc001skb.3	-	0	173	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.Q23*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.Q23*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.Q23*|SMARCC2_uc010sqf.2_5'UTR|TRNA_uc021qyx.1_5'Flank|TRNA_uc021qyy.1_5'Flank	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	23					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTCGAACTGGGTCACGGTG	0.731000														67			17		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438420	90438420	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:90438420A>G	uc001kfg.2	+	9	1293	c.1179A>G	c.(1177-1179)atA>atG	p.I393M	LIPF_uc001kfh.2_Missense_Mutation_p.I370M|LIPF_uc010qmt.2_Missense_Mutation_p.I403M|LIPF_uc010qmu.2_Missense_Mutation_p.I360M	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	393					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTCTATGATATCAGAAGATA	0.308000														26			16		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21141429	21141430	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21141429_21141430GG>TA	uc002kum.4	-	4	799_800	c.525_526CC>TA	c.(523-528)ctcctg>ctTAtg	p.L176M	NPC1_uc010xaz.2_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.L21M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	176					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCCCACACAGGAGTCCCAGGG	0.500000														107			32		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17088027	17088027	+	Silent	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:17088027G>T	uc001ioo.3	-	23	3448	c.3396C>A	c.(3394-3396)atC>atA	p.I1132I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1132	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGAGAGATGATTGTTGGGG	0.373000														77			36		1.42033e-22	1.45294e-22	1	1	0
PDGFRL	5157	broad.mit.edu	37	8	17447050	17447050	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:17447050G>A	uc003wxr.3	+	2	574	c.129G>A	c.(127-129)aaG>aaA	p.K43K		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	43						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTACCAACAAGAAGGTGAAGC	0.453000														89			46		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025528	203025528	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:203025528G>A	uc009xaj.3	+	22	2507	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PPFIA4_uc010pqf.2_Missense_Mutation_p.R418Q|PPFIA4_uc001gyz.3_Missense_Mutation_p.R205Q|PPFIA4_uc001gza.3_Missense_Mutation_p.R205Q|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	205					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAGAACCGAGAGGATAAA	0.587000														27			23		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518536	93518536	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:93518536G>A	uc010tif.2	+	8	1928	c.1562_splice	c.e8-1	p.W521_splice		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	521						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTCTACAGGGATGCCAGATG	0.428000														68			18		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62349956	62349956	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:62349956C>T	uc001dab.3	+	21	3121	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	INADL_uc009waf.1_Missense_Mutation_p.P1003S|INADL_uc001daa.2_Missense_Mutation_p.P1003S|INADL_uc001dad.3_Missense_Mutation_p.P700S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1003					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTGACCTTCCTGTTGTGGC	0.463000														100			33		0	0	1	0	0
C21orf7	56911	broad.mit.edu	37	21	30521536	30521536	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:30521536C>T	uc002ynf.3	+	6	674	c.397C>T	c.(397-399)Cct>Tct	p.P133S	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.P133S|C21orf7_uc010glo.3_5'UTR|C21orf7_uc002yng.3_Missense_Mutation_p.P33S|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	133						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		AGACTCCATTCCTTTGGTCTT	0.423000														66			26		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87367779	87367779	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:87367779G>A	uc002fjw.3	-	7	1154	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	FBXO31_uc010vot.2_Silent_p.V198V|FBXO31_uc002fjv.3_Silent_p.V262V	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	370					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCACCTCCAGGACGATGCGGG	0.697000														52			21		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242260	45242260	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:45242260G>A	uc002xsf.2	-	1	256	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SLC13A3_uc010ghn.2_Silent_p.F41F|SLC13A3_uc010zxx.2_Intron|SLC13A3_uc010zxw.2_Silent_p.F72F|SLC13A3_uc002xsg.2_Silent_p.F25F|SLC13A3_uc010gho.2_Silent_p.F25F|SLC13A3_uc002xsi.4_Silent_p.F25F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	72						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGATGCCCATGAAGGGGAAGA	0.607000														8			10		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50988169	50988170	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:50988169_50988170CC>TT	uc003bmi.3	+	0	1708_1709	c.1574_1575CC>TT	c.(1573-1575)ccc>cTT	p.P525L		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	525										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTCCCTGCCCCTGCCCGCCC	0.693000														29			5		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063852	3063852	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:3063852C>T	uc010uwo.1	+	0	1396	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	163					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGGGGCCTCCCTCTACCTGG	0.711000														19			5		0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13058954	13058954	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:13058954C>T	uc004cvh.2	-	4	579	c.252G>A	c.(250-252)agG>agA	p.R84R	FAM9C_uc004cvg.3_Silent_p.R84R	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA.	84						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCTTTTCAATCCTTTTTCTCT	0.294000														4			6		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25878021	25878021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:25878021G>A	uc001isj.3	+	7	1899	c.1839G>A	c.(1837-1839)atG>atA	p.M613I		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	613						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCGCTATATGGCTGTTGCAG	0.403000														52			21		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32122013	32122013	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:32122013A>G	uc001btk.1	-	65	4454	c.4089T>C	c.(4087-4089)ccT>ccC	p.P1363P	COL16A1_uc001btj.1_Silent_p.P1161P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1363	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGGACCAGGAGGTCCATAGA	0.587000														15			5		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306371	54306371	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:54306371C>T	uc021smr.1	+	0	1271	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	UNC13C_uc021sms.1_Missense_Mutation_p.S424F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	424					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATACCATCCTCCCAGACATAT	0.378000														66			22		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043854	56043854	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56043854G>A	uc001nio.1	+	0	740	c.740G>A	c.(739-741)aGa>aAa	p.R247K		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R246W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GAAGGGAGGAGAAAAGTCTTC	0.438000														138			49		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:228882461G>A	uc002vpq.2	-	6	3156	c.3109C>T	c.(3109-3111)Ctt>Ttt	p.L1037F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1037F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1037F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1037						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)		TTGGCAAAAAGATTGACAGAA	0.502000														60			24		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046114	7046114	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:7046114G>A	uc001qrw.1	+	4	1921	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	ATN1_uc001qrx.1_Missense_Mutation_p.G562S	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	562	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGCCAAGCAGGCCCCAATGG	0.627000														62			19		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040274	88040274	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:88040274C>T	uc003dqr.2	+	1	533	c.375C>T	c.(373-375)atC>atT	p.I125I	HTR1F_uc021xbd.1_Silent_p.I125I	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCGAGCAATCACAGATGCTG	0.443000														51			21		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29628311	29628311	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:29628311C>T	uc003aem.3	+	7	818	c.743C>T	c.(742-744)cCt>cTt	p.P248L	EMID1_uc003aen.3_Missense_Mutation_p.P246L|EMID1_uc021wnr.1_5'Flank	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	246	Collagen-like.					collagen		p.G247*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GAGAGGGGACCTCCTGGGCCA	0.697000														11			24		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														16			4		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74188197	74188197	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:74188197G>A	uc010tud.1	-	9	2987	c.2740C>T	c.(2740-2742)Cca>Tca	p.P914S	C14orf43_uc001xos.3_Missense_Mutation_p.P179S|C14orf43_uc001xot.3_Missense_Mutation_p.P914S|C14orf43_uc001xou.3_Missense_Mutation_p.P914S|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGCACCCTTGGGAACTTTTGG	0.592000														39			11		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136437805	136437805	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136437805C>T	uc002tuo.3	+	19	2635	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	R3HDM1_uc010fni.3_Silent_p.F754F|R3HDM1_uc002tup.3_Silent_p.F700F|R3HDM1_uc010zbh.2_Silent_p.F503F	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	755							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTGTTATGTTCCCTAATCAGT	0.383000														99			23		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655316	247655316	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:247655316G>A	uc001icz.2	+	0	947	c.887G>A	c.(886-888)gGa>gAa	p.G296E		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGGAACAAGGATGTGAAGGG	0.517000														101			12		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70291501	70291501	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:70291501C>T	uc001dep.3	+	2	408	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LRRC7_uc001deo.1_Silent_p.P164P|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	126						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						GTGTCAATCCCATTTCTAAGT	0.264000														48			11		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44892813	44892813	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:44892813G>A	uc001ztx.3	-	20	3569	c.3538C>T	c.(3538-3540)Cca>Tca	p.P1180S	SPG11_uc010ueh.2_Missense_Mutation_p.P1180S|SPG11_uc010uei.2_Missense_Mutation_p.P1180S|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1180					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAGAAATGTGGGAGATGACTC	0.353000														89			36		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27255347	27255347	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:27255347C>T	uc001uqv.3	+	7	1098	c.873C>T	c.(871-873)gcC>gcT	p.A291A	WASF3_uc001uqw.3_Silent_p.A288A	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	291					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCCATCTGCCTCGGCGAGGC	0.701000														58			23		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091383	31091383	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31091383G>A	uc002eap.3	+	1	4027	c.3738G>A	c.(3736-3738)aaG>aaA	p.K1246K	ZNF646_uc021tgu.1_Silent_p.K1246K	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTCCCTCAAGAACCACCGGC	0.647000														40			15		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559455	129559455	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:129559455G>A	uc009zyl.1	-	8	2593	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	TMEM132D_uc001uia.2_Silent_p.I293I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	755						integral to membrane				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)		CCGCAGCAATGATAGGCCACT	0.473000														81			27		0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968752	21968752	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:21968752A>G	uc002djx.3	+	2	268	c.132A>G	c.(130-132)ccA>ccG	p.P44P		NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	44					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCAAGTTACCAAATGGCTTGG	0.358000														39			19		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73009975	73009975	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:73009975A>C	uc003tyn.1	-	14	2350	c.2302T>G	c.(2302-2304)Ttc>Gtc	p.F768V	MLXIPL_uc003tyj.1_Missense_Mutation_p.F147V|MLXIPL_uc003tyk.1_Missense_Mutation_p.F747V|MLXIPL_uc003tym.1_Missense_Mutation_p.F749V|MLXIPL_uc003tyl.1_Missense_Mutation_p.F766V|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.F674V	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	768					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCACCCAGAACTTCCAGTTG	0.622000														43			18		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027865	143027865	+	Splice_Site	SNP	G	A	A	rs150885084		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:143027865G>A	uc003wcr.1	+	8	941	c.854_splice	c.e8-1	p.G285_splice	CLCN1_uc011ktc.1_Splice_Site|CLCN1_uc003wcs.1_Splice_Site|CLCN1_uc010lox.1_Splice_Site|CLCN1_uc010loy.1_Splice_Site_p.E81_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	285			G -> E (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCCCTGCAGGAGTGCTATTT	0.537000														100			26		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010648	68010648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:68010648C>T	uc002evc.4	-	7	1218	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	DPEP3_uc010cex.3_Missense_Mutation_p.G374E	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	350					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GAACTCAGATCCAATGACTGC	0.567000														28			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18045505	18045505	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:18045505G>A	uc021trm.1	+	22	5981	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	MYO15A_uc021trl.1_Missense_Mutation_p.R1919Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1921	IQ 1.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTAAGCGGCGATTCCGCTCT	0.577000														24			9		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188673	24188673	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:24188673C>T	uc003xdy.3	+	11	1197	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	ADAM28_uc003xdx.3_Missense_Mutation_p.P372S|ADAM28_uc011kzz.2_Missense_Mutation_p.P139S|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P59S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	372	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTTCTATATACCCACAGACTT	0.393000														102			34		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148922	34148922	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:34148922G>A	uc004ddg.3	-	0	1526	c.1474C>T	c.(1474-1476)Cac>Tac	p.H492Y		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	492										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTGCGAGTGGAGACTGGAC	0.637000														23			21		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	A	A	rs146325339	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:55179098G>A	uc002qgp.3	+	10	1416	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_uc002qgq.3_Missense_Mutation_p.D351N|LILRB4_uc010ert.3_Missense_Mutation_p.D393N|LILRB4_uc010eru.3_Missense_Mutation_p.D382N	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000														63			9		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107925	45107925	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45107925G>A	uc002zdk.3	+	12	1784	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E	RRP1B_uc002zdl.3_Missense_Mutation_p.G90E	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	557					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCCGCAGAGGGGGCGAACAGC	0.662000														13			9		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204949556	204949556	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:204949556G>A	uc010prc.2	+	18	2465	c.936G>A	c.(934-936)gaG>gaA	p.E312E	NFASC_uc001hbj.3_Silent_p.E745E|NFASC_uc010pra.2_Silent_p.E741E|NFASC_uc001hbi.3_Silent_p.E741E|NFASC_uc010prb.2_Silent_p.E756E|NFASC_uc001hbk.1_Silent_p.E551E|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	745	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAACATGGAGATCACGTGGA	0.602000														32			4		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109743	231109743	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:231109743G>A	uc002vql.3	+	5	727	c.612G>A	c.(610-612)aaG>aaA	p.K204K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.K204K|SP140_uc002vqn.3_Silent_p.K204K|SP140_uc002vqm.3_Silent_p.K204K|SP140_uc010fxl.3_Silent_p.K204K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	204					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCTCCCAAAGGCTGGTGGAG	0.463000														30			16		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44490172	44490172	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:44490172C>T	uc003cnf.2	-	7	1339	c.991G>A	c.(991-993)Gca>Aca	p.A331T	ZNF445_uc011azv.1_Missense_Mutation_p.A319T|ZNF445_uc011azw.1_Missense_Mutation_p.A331T	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	331					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAGGTTTCTGCTTCTTCCAAA	0.408000														29			12		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102459092	102459092	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:102459092G>T	uc002tbc.3	+	10	1349	c.971G>T	c.(970-972)aGt>aTt	p.S324I	MAP4K4_uc002tbf.3_Missense_Mutation_p.S324I|MAP4K4_uc002tbd.3_Missense_Mutation_p.S324I|MAP4K4_uc010yvy.2_Missense_Mutation_p.S324I|MAP4K4_uc002tbh.3_Missense_Mutation_p.S324I|MAP4K4_uc002tbg.3_Missense_Mutation_p.S324I|MAP4K4_uc002tbi.3_Missense_Mutation_p.S177I|MAP4K4_uc010yvz.2_Missense_Mutation_p.S304I|MAP4K4_uc002tbk.3_5'Flank|MAP4K4_uc002tbj.1_Missense_Mutation_p.S220I	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	324					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATGAGTACAGTGGGAGTGAG	0.463000														12			3		6.4e-05	6.45431e-05	1	1	0
DFNB31	25861	broad.mit.edu	37	9	117168916	117168916	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:117168916G>T	uc004biy.4	-	8	1446	c.806C>A	c.(805-807)gCc>gAc	p.A269D	DFNB31_uc004bix.3_Missense_Mutation_p.A301D|DFNB31_uc004biz.4_Missense_Mutation_p.A652D|DFNB31_uc004bja.4_Missense_Mutation_p.A652D	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	652					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGACGGAGGCATAGATGGG	0.672000														54			22		2.39556e-15	2.43657e-15	1	1	0
TCP10	6953	broad.mit.edu	37	6	167786710	167786710	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:167786710C>T	uc003qvv.1	-	7	1140	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	337						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGGAAATTCACTCGGGAAA	0.552000														52			8		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440440	40440440	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:40440440C>T	uc003gvc.2	-	3	1181	c.471G>A	c.(469-471)ggG>ggA	p.G157G	RBM47_uc003gvd.2_Silent_p.G157G|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.G119G|RBM47_uc003gvg.1_Silent_p.G157G	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	157	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCTTGGGGATCCCGCCGATGA	0.642000														38			21		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68613777	68613777	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:68613777G>A	uc002sen.4	+	4	778	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PLEK_uc010fde.3_Missense_Mutation_p.E206K	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	206	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGGAACTGCTGAAAACCCTTT	0.512000														87			26		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578466	44578466	+	Missense_Mutation	SNP	C	T	T	rs1468384		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:44578466C>T	uc003tlb.3	-	1	1586	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	NPC1L1_uc011kbw.2_Missense_Mutation_p.M510I|NPC1L1_uc003tlc.3_Missense_Mutation_p.M510I|NPC1L1_uc003tld.3_Missense_Mutation_p.M510I	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	510			M -> I (in dbSNP:rs1468384).		cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGTCTGCCCCATCAGTGTCT	0.587000														147			17		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93429102	93429102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:93429102G>A	uc001ybg.3	-	5	746	c.457C>T	c.(457-459)Cca>Tca	p.P153S	ITPK1_uc001ybe.2_Missense_Mutation_p.P153S|ITPK1_uc001ybf.3_Missense_Mutation_p.P34S|ITPK1_uc001ybh.3_Missense_Mutation_p.P153S	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	153	ATP-grasp.				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)		GCACTGAATGGGAAAGTCAAG	0.597000														68			27		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965380	48965380	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:48965380C>T	uc010kyv.1	+	0	1224	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GATGACATTTCCATAAATGGG	0.483000														62			6		0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22275467	22275467	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:22275467G>A	uc001uog.2	+	2	1357	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	174					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GACCCCGAGAGAAGGGACTAG	0.423000														59			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570190	136570190	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:136570190C>T	uc002tuu.1	-	6	2055	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	682	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G682C(2)		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)		TGCGACAGACCCAGAAAATCA	0.537000														46			18		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224678	248224678	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:248224678G>A	uc001idx.1	+	0	695	c.695G>A	c.(694-696)gGg>gAg	p.G232E	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTGCAGAAGGGAGGAAGAAA	0.468000														107			98		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141092073	141092073	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:141092073C>T	uc002tvj.1	-	78	13144	c.12172G>A	c.(12172-12174)Gat>Aat	p.D4058N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4058					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4058Y(2)|p.M4057I(1)		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)		AGTGTACCATCCATGGCTGCT	0.438000										TSP Lung(27;0.18)				81			26		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361571	70361571	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:70361571C>T	uc003hek.4	-	0	56	c.9G>A	c.(7-9)atG>atA	p.M3I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.M3I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	3					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M3L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGTCCATTTCATAGACATCC	0.443000														159			50		0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33406291	33406291	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:33406291G>A	uc003xjo.1	-	5	850	c.448C>T	c.(448-450)Cta>Tta	p.L150L		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	150						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding	p.L150I(2)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TCATCCAATAGAATCCCAATG	0.547000														132			44		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419971	40419971	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:40419971C>T	uc002omp.4	-	5	3031	c.3023G>A	c.(3022-3024)gGg>gAg	p.G1008E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1008	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCTGGGTCCCCGTTGAAGTT	0.597000														34			15		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086285	171086285	+	Missense_Mutation	SNP	G	A	A	rs72549332		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:171086285G>A	uc001ghi.3	+	8	1413	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	FMO3_uc001ghh.3_Missense_Mutation_p.M434I|FMO3_uc010pmb.2_Missense_Mutation_p.M414I|FMO3_uc010pmc.2_Missense_Mutation_p.M371I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	434			M -> I (in TMAU; profoundly alters enzyme function).		xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTTTATATGGATGAACTCT	0.453000														64			41		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942228	71942228	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:71942228C>T	uc001osf.3	+	11	1639	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	INPPL1_uc001osg.3_Missense_Mutation_p.R256C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	498					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.R498S(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCTGGATTACCGCCCGGTGAG	0.597000														82			39		0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187962	70187962	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:70187962C>T	uc002sfz.4	-	0	1436	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGAGCACATCAGTGCCAATG	0.572000														84			32		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	T	T	rs79388709		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000														61			5		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609924	32609924	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:32609924T>A	uc003obr.3	+	2	560	c.507T>A	c.(505-507)caT>caA	p.H169Q	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.H169Q|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	168	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGAGTGATCATTCCTTCTTCA	0.498000														45			36		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674873	122674873	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:122674873C>T	uc009zxm.3	+	4	884	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	LRRC43_uc001ubw.4_Missense_Mutation_p.P102S|LRRC43_uc009zxn.3_Missense_Mutation_p.P48S	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	287	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CACCGTGTCTCCCAATGAGAA	0.652000														56			21		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505253	159505253	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159505253G>A	uc010piw.2	-	0	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y181*(1)		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)					TTTCATGACTGGGTAAATGTC	0.393000														88			18		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:26147192C>T	uc002dof.3	+	1	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	332					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552000														161			59		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131255052	131255052	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:131255052C>T	uc004bvc.3	+	15	1998	c.1912C>T	c.(1912-1914)Ctt>Ttt	p.L638F	ODF2_uc011maz.2_Missense_Mutation_p.L574F|ODF2_uc011mbc.2_Missense_Mutation_p.L493F|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Missense_Mutation_p.L618F|ODF2_uc004bvb.3_Missense_Mutation_p.L550F|ODF2_uc011mbd.2_Missense_Mutation_p.L574F|ODF2_uc011mbe.2_Missense_Mutation_p.L569F|ODF2_uc011mbf.2_Missense_Mutation_p.L555F|ODF2_uc004bvd.4_Missense_Mutation_p.L574F|ODF2_uc004bve.3_Missense_Mutation_p.L555F	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	574					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAACAAGATCCTTAAAGATGA	0.448000														38			8		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52672077	52672077	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:52672077G>A	uc002aby.2	-	16	2285	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	MYO5A_uc002abx.3_Silent_p.L681L|MYO5A_uc010uge.1_Silent_p.L550L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	681	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATGCTCTCAGCTGCTGCACT	0.498000														66			26		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628660	71628660	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:71628660G>A	uc004agy.3	-	0	380	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	117	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			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						ACCAGGTACAGGTAGGAGTTG	0.572000														67			22		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669922	67669922	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:67669922C>T	uc001xja.2	+	3	561	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	91										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GCTACTGGCCCATCTGACACC	0.483000														16			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228258	3228258	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:3228258G>A	uc004crg.4	-	6	8143	c.7986C>T	c.(7984-7986)ccC>ccT	p.P2662P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2662	Ig-like C2-type 11.					extracellular region		p.P2661F(1)		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)				GCCCAGCCCCGGGAGGGGTGC	0.592000														21			26		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206364752	206364752	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:206364752C>T	uc002var.2	+	20	3384	c.3177C>T	c.(3175-3177)ctC>ctT	p.L1059L	PARD3B_uc002vao.2_Silent_p.L958L|PARD3B_uc002vap.2_Silent_p.L997L|PARD3B_uc002vaq.2_Silent_p.L990L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1059					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATGACCTACTCTGGGTAAGCG	0.428000														108			38		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301774	42301774	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:42301774C>T	uc002orn.1	+	1	394	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CEACAM3_uc010eia.1_Silent_p.S106S|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	106	Ig-like V-type.					integral to membrane		p.R98_S106delRETIYTNAS(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCAATGCATCCCTGCTGATCC	0.453000														166			72		0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87311363	87311363	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:87311363C>T	uc010hoj.1	-	3	665	c.540G>A	c.(538-540)ggG>ggA	p.G180G	POU1F1_uc003dqq.1_Silent_p.G154G	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	154	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CCAGGGCCTCCCCAACATTTG	0.428000														85			17		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134175040	134175040	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:134175040C>A	uc010quw.1	+	8	1445	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.P417Q|LRRC27_uc001llj.2_Missense_Mutation_p.P355Q|LRRC27_uc001llk.4_Missense_Mutation_p.P290Q	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	417										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AAAATGAAACCAAGCAAAGAG	0.483000														63			18		1.33834e-09	1.35352e-09	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48267689	48267689	+	Splice_Site	SNP	G	A	A	rs74315133		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48267689G>A	uc002iqm.3	-	35	2577	c.2451_splice	c.e35+1	p.P817_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	817	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)	GGTACTCACAGGGGGGCCAGC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							40			10		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88053460	88053460	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:88053460C>T	uc011ccz.2	+	18	3486	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	AFF1_uc003hqj.4_Missense_Mutation_p.R1064C|AFF1_uc003hqk.4_Missense_Mutation_p.R1064C|AFF1_uc011cda.2_Missense_Mutation_p.R702C	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1064						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGCGATGTTTCGTTGTAAAAA	0.413000														41			12		0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412391	81412391	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:81412391A>T	uc003ybx.4	+	1	2233	c.1635A>T	c.(1633-1635)gaA>gaT	p.E545D	ZBTB10_uc003ybv.4_Missense_Mutation_p.E253D|ZBTB10_uc003ybw.4_Missense_Mutation_p.E545D|ZBTB10_uc022awq.1_Missense_Mutation_p.E545D|ZBTB10_uc010lzt.3_Missense_Mutation_p.E545D|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	545					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GATCTCCTGAAATGGCTGAAA	0.393000														19			10		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99500556	99500556	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:99500556G>A	uc002bul.3	+	20	4039	c.3989G>A	c.(3988-3990)gGc>gAc	p.G1330D	IGF1R_uc010bon.3_Missense_Mutation_p.G1329D	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1330					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AACGGCCCCGGCCCTGGGGTG	0.692000														31			12		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334210	77334210	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:77334210T>C	uc001dhi.3	+	1	219	c.44T>C	c.(43-45)cTc>cCc	p.L15P	ST6GALNAC5_uc010ori.2_Missense_Mutation_p.L15P|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	15					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TGTTTAGCGCTCACCACCATG	0.677000														52			12		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341279	240341279	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:240341279C>T	uc010pye.2	+	2	2066	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	FMN2_uc010pyd.2_Missense_Mutation_p.S614L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	614					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)			TTGGACTATTCAGAAGGGCAG	0.438000														52			9		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48680281	48680281	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:48680281C>A	uc003cuf.1	-	31	8737	c.8737G>T	c.(8737-8739)Gag>Tag	p.E2913*	CELSR3_uc010hkf.3_Nonsense_Mutation_p.E105*|CELSR3_uc010hkg.3_Nonsense_Mutation_p.E798*|CELSR3_uc003cul.3_Nonsense_Mutation_p.E2815*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2815					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCCACTCTCCTCAAAGAGA	0.642000														48			18		8.10497e-08	8.18533e-08	1	1	0
SPOCK2	9806	broad.mit.edu	37	10	73826873	73826873	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:73826873C>T	uc001jso.2	-	7	1160	c.715G>A	c.(715-717)Gac>Aac	p.D239N	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.D239N	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	239					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGGCTCTTGTCCAGCCCTGGG	0.612000														11			9		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109209	106109209	+	Silent	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:106109209T>C	uc004emo.3	+	15	2773	c.2608T>C	c.(2608-2610)Tta>Cta	p.L870L	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	870	EF-hand.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCAGATTGTTAGATGAAAA	0.368000														24			30		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27192519	27192519	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:27192519G>A	uc011lno.2	+	9	1835	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	TEK_uc003zqi.4_Missense_Mutation_p.E508K|TEK_uc011lnp.2_Missense_Mutation_p.E361K|TEK_uc003zqj.1_Missense_Mutation_p.E442K	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	508	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAACTATTTGGAACCTCGGAC	0.473000														110			37		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221332	1221332	+	Silent	SNP	C	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:1221332C>G	uc003jbw.4	+	10	1661	c.1605C>G	c.(1603-1605)cgC>cgG	p.R535R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	535					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)			TCACGTGGCGCGTGGTCAGCC	0.547000														25			11		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606478	47606478	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:47606478G>A	uc001cqv.1	+	1	273	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CYP4A22_uc009vyo.3_Silent_p.R74R|CYP4A22_uc009vyp.3_Silent_p.R74R	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	74						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.R74Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACAACGGATTCAGGAAC	0.483000														84			25		0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136470166	136470166	+	Silent	SNP	C	T	T	rs147742474		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:136470166C>T	uc003yuv.3	+	0	451	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KHDRBS3_uc003yuw.3_Silent_p.S19S	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	19					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TGGACCCCTCCTTCACGCACG	0.731000														21			4		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427506	119427506	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:119427506C>T	uc001ehl.1	-	7	1655	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	TBX15_uc009whj.1_Missense_Mutation_p.G271E	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	553						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTCTCTCCAAAGGCCCC	0.537000														30			10		0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32598281	32598281	+	Splice_Site	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:32598281A>C	uc002hhz.3	+	2	264	c.194_splice	c.e2+1	p.I65_splice	CCL7_uc010ctf.3_Intron	NM_006273	NP_006264	P80098	CCL7_HUMAN	Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.	65					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAAGCTGTAATGTATGTGGA	0.493000														99			31		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152325177	152325177	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:152325177C>T	uc002txm.3	+	32	7009	c.6848C>T	c.(6847-6849)tCc>tTc	p.S2283F	RIF1_uc002txn.3_Missense_Mutation_p.S2257F|RIF1_uc002txl.3_Missense_Mutation_p.S2257F|RIF1_uc002txo.3_Missense_Mutation_p.S2257F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2283	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCAAAGAATCCATACCATGC	0.373000														112			32		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003503	166003503	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:166003503T>G	uc002ucx.3	-	11	1909	c.1417A>C	c.(1417-1419)Agt>Cgt	p.S473R	SCN3A_uc002ucy.3_Missense_Mutation_p.S473R|SCN3A_uc002ucz.3_Missense_Mutation_p.S473R|SCN3A_uc002uda.1_Missense_Mutation_p.S342R|SCN3A_uc002udb.1_Missense_Mutation_p.S342R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	473						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCTATTCCACTGAAATCTCTT	0.428000														64			20		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464237	141464237	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141464237C>T	uc003vwp.1	+	0	341	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	93					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CATTTACAAACCATCTGAGCA	0.408000														555			77		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141816566	141816566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:141816566C>T	uc002tvj.1	-	8	2266	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	432					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D432E(1)		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)		TTGTAGTTATCAGAATTGGTT	0.294000										TSP Lung(27;0.18)				101			19		0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93590705	93590705	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:93590705C>T	uc001khp.3	+	9	1427	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	377					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.Y376N(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTCCATATCCCAAAAGAAAG	0.303000														20			8		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27066202	27066202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:27066202G>A	uc002hcp.3	+	9	1400	c.1400G>A	c.(1399-1401)tGg>tAg	p.W467*		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	467						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTATTTGCCTGGGGCCGTGGA	0.597000														107			39		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110422196	110422196	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110422196G>A	uc003yne.3	+	18	2178	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	692					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)			CTATGAAACTGATTTTAATCT	0.299000										HNSCC(38;0.096)				19			13		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147101	55147101	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:55147101C>T	uc003pcl.3	+	6	1499	c.1184C>T	c.(1183-1185)aCc>aTc	p.T395I	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	395					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)			GATCGGCTCACCAGGGGACGA	0.463000														65			12		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42233525	42233525	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:42233525G>A	uc003ose.2	-	5	2011	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	TRERF1_uc011duq.1_Missense_Mutation_p.P483L|TRERF1_uc003osb.2_Missense_Mutation_p.P322L|TRERF1_uc003osc.2_Missense_Mutation_p.P322L|TRERF1_uc003osd.2_Missense_Mutation_p.P483L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	483	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCCATCAGGTAGGTGCAT	0.502000														37			8		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627539	170627539	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:170627539C>T	uc003qxp.3	+	1	1169	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	FAM120B_uc003qxo.1_Missense_Mutation_p.P354L|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	354					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAAGAAGTTCCCATGTGTACA	0.483000														184			60		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723933	7723933	+	Silent	SNP	C	T	T	rs141193119		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:7723933C>T	uc001aoi.3	+	8	1533	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K441N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCACAAGTTCGCCTTTCCCA	0.652000			T	WWTR1	epitheliod hemangioendothelioma									41			15		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131230	136131230	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:136131230G>A	uc004cda.1	-	7	910	c.885C>T	c.(883-885)atC>atT	p.I295I	ABO_uc010naf.1_Silent_p.I155I|ABO_uc011mcz.1_Silent_p.I155I|ABO_uc010nag.1_Silent_p.I155I	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	296					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		ACACGGCCTCGATGCCGTTGG	0.647000														43			18		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43402557	43402557	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:43402557C>T	uc003ouy.1	+	3	1794	c.1579C>T	c.(1579-1581)Ctc>Ttc	p.L527F	ABCC10_uc003ouz.1_Missense_Mutation_p.L484F|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	527	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCTATGTCCTCATGGGGCA	0.572000														49			40		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830917	13830917	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:13830917G>A	uc010gcf.3	-	18	1949	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	SEL1L2_uc002woq.4_Missense_Mutation_p.P484S|SEL1L2_uc010zrl.2_Missense_Mutation_p.P510S|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	623						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGGGCATCTGGACTCGTTTGA	0.453000														96			30		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	367654	367654	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:367654C>T	uc003bot.3	+	3	746	c.104C>T	c.(103-105)cCa>cTa	p.P35L	CHL1_uc003bou.3_Missense_Mutation_p.P35L|CHL1_uc003bow.2_Missense_Mutation_p.P35L|CHL1_uc011asi.2_Missense_Mutation_p.P35L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	35	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAACAGGTTCCAACAATCATA	0.333000														54			12		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20833083	20833083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:20833083C>T	uc001reh.2	+	15	3344	c.3304C>T	c.(3304-3306)Caa>Taa	p.Q1102*	PDE3A_uc021qwa.1_Nonsense_Mutation_p.Q780*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1102					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)	CATAGAAAATCAATCCCTGGA	0.468000														124			37		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131205	52131205	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:52131205G>A	uc002pxe.3	-	4	1018	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	293	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGGTATTGGAGATGGGGGTGG	0.622000														57			16		0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55274789	55274789	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:55274789G>A	uc002lgs.2	-	7	916	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	NARS_uc010xea.1_Intron|NARS_uc010xeb.1_Non-coding_Transcript|NARS_uc010xec.2_Missense_Mutation_p.L230F|NARS_uc010xed.2_Missense_Mutation_p.L197F	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	230					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTGTTGTTGAGCTGGACATCA	0.478000														95			32		0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38545387	38545387	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:38545387G>A	uc003ooa.4	-	6	1719	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	BTBD9_uc010jwv.3_Silent_p.A322A|BTBD9_uc003ony.4_Silent_p.A313A|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.A381A	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	381					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TGCAGACACGGGCTGGAAAAT	0.353000														92			28		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995526	38995526	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:38995526G>A	uc002oit.3	+	50	8336	c.8206G>A	c.(8206-8208)Gat>Aat	p.D2736N	RYR1_uc002oiu.3_Missense_Mutation_p.D2736N|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2736	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCAACTTTGATCCCCGGCC	0.587000														33			9		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	62014569	62014569	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:62014569C>T	uc001xfn.3	+	12	2175	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	PRKCH_uc010tsa.2_Missense_Mutation_p.H463Y|PRKCH_uc010tsb.2_Missense_Mutation_p.H192Y|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	624	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAGCTGAACCATCGCCAAAT	0.522000														172			65		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849559	73849559	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:73849559G>A	uc003xzb.3	+	2	2557	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	657			E -> G (in dbSNP:rs16938507).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTATCCAGAGAGAAAGGACC	0.577000														43			34		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42850448	42850448	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:42850448G>A	uc002ihh.3	+	9	820	c.820G>A	c.(820-822)Gat>Aat	p.D274N	ADAM11_uc010wjd.2_Missense_Mutation_p.D74N	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	274	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAACCTGGCCGATGTGGTAAG	0.622000														32			16		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216542	8216542	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:8216542G>A	uc002glc.3	+	2	1059	c.904G>A	c.(904-906)Gat>Aat	p.D302N	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Missense_Mutation_p.D302N|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	302					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCAGATCTTGATCTGCTTTC	0.592000														37			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469504	152469504	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:152469504C>T	uc021zhb.1	-	134	24875	c.24652G>A	c.(24652-24654)Gat>Aat	p.D8218N	SYNE1_uc003qos.4_Missense_Mutation_p.D2742N|SYNE1_uc003qot.4_Missense_Mutation_p.D8147N|SYNE1_uc003qou.4_Missense_Mutation_p.D8218N|SYNE1_uc011eez.2_Missense_Mutation_p.D420N|SYNE1_uc003qoq.4_Missense_Mutation_p.D420N|SYNE1_uc003qor.4_Missense_Mutation_p.D1118N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8218					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGTGCTCATCGTCTGGGAGC	0.562000										HNSCC(10;0.0054)				16			7		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72893539	72893539	+	Missense_Mutation	SNP	G	A	A	rs141003657	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:72893539G>A	uc004ahr.2	+	4	793	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	226					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.L225L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAACAGCTCGAGGTACTTTA	0.358000														38			12		0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:12878930C>T	uc010lsq.3	+	4	1234	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.R161C|KIAA1456_uc010lsr.3_Missense_Mutation_p.R122C	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	248							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418000														39			20		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4056981	4056981	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:4056981G>A	uc003smx.3	+	16	2738	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SDK1_uc010kso.3_Missense_Mutation_p.G143R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	867					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACCTTGCAGGGAGGTAAGCT	0.537000														18			22		0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13386800	13386801	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:13386800_13386801GG>AA	uc001imk.3	-	1	527_528	c.150_151CC>TT	c.(148-153)ttccaa>ttTTaa	p.Q51*	SEPHS1_uc010qbt.2_Intron|SEPHS1_uc021pnc.1_Nonsense_Mutation_p.Q51*|SEPHS1_uc021pnd.1_Nonsense_Mutation_p.Q51*|SEPHS1_uc009xje.3_Nonsense_Mutation_p.Q51*	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	51					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCATCTTCTTGGAAGTGGTTCT	0.485000														135			48		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75018996	75018996	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:75018996G>A	uc001xqa.3	-	5	1680	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	431					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCGGCTGCGGGATAGGCAGGT	0.662000														45			15		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841097	18841097	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:18841097G>A	uc021qvx.1	-	12	1708	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	PLCZ1_uc001rdv.4_Missense_Mutation_p.S402L|PLCZ1_uc001rdw.4_Missense_Mutation_p.S247L|PLCZ1_uc001rdu.1_Missense_Mutation_p.S288L|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	506	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATTACTAATGAATCACCTTT	0.318000														102			33		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691718	106691718	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:106691718C>T	uc021ser.1	-	1156		c.25275G>A								Parts of antibodies, mostly variable regions.																		TCAGGCTGTTCATTTGCAGAT	0.512000														135			47		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020132	9020132	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9020132C>T	uc002mkp.3	-	20	37567	c.37363G>A	c.(37363-37365)Gga>Aga	p.G12455R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12457	SEA 3.				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						GCATCCACTCCAGTGGCTGCT	0.517000														89			35		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757063	56757063	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56757063C>T	uc010rjp.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGCCACCATCCTGAAAATGT	0.428000														102			39		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952557	54952557	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:54952557C>T	uc003dhl.3	-	2	1101	c.967G>A	c.(967-969)Gga>Aga	p.G323R	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	323						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCCAAGGGTCCCCCATGGTAC	0.507000														116			46		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134791	48134791	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48134791C>T	uc001rpz.4	-	19	2506	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Silent_p.V67V|RAPGEF3_uc010sln.2_Silent_p.V125V|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.V610V|RAPGEF3_uc009zkq.3_Silent_p.V610V	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	610					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCAGAGCCCACAGTGGGCC	0.647000														15			9		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077105	144077105	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:144077105C>T	uc003wel.3	+	14	4868	c.4750C>T	c.(4750-4752)Cga>Tga	p.R1584*	ARHGEF5_uc003wem.3_Nonsense_Mutation_p.R385*	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1584					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R1584L(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAAGCTCATCGAGTCAAGAC	0.547000														172			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834560	61834560	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:61834560C>T	uc001jky.3	-	36	6417	c.6079G>A	c.(6079-6081)Gat>Aat	p.D2027N	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.	2027					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						AAGTTATAATCCTTTTCGGAG	0.428000														85			25		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825140	26825140	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:26825140G>A	uc001iss.3	+	9	1359	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	APBB1IP_uc009xks.1_Silent_p.K346K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	346	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCAAAGGAAAGACTAAGGTCA	0.328000														73			34		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250148	68250148	+	Silent	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:68250148G>T	uc001xka.2	-	20	3860	c.3721C>A	c.(3721-3723)Cgg>Agg	p.R1241R	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.R1241R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGCTTTGCCGGGATGAGCAA	0.592000														65			26		5.77227e-19	5.88788e-19	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														19			6		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270153	123270153	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:123270153C>A	uc003vku.1	+	10	1866	c.1574C>A	c.(1573-1575)cCa>cAa	p.P525Q	ASB15_uc003vkw.1_Missense_Mutation_p.P525Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	525	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGAGAATGGCCAGAAATCCGC	0.358000														50			78		9.55688e-25	9.79031e-25	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432661	104432661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:104432661C>T	uc004bbp.2	-	2	2634	c.2033G>A	c.(2032-2034)tGg>tAg	p.W678*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W678*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	678					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AATCCCCAGCCACATTGTCCA	0.522000														75			35		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122437850	122437850	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:122437850G>A	uc009zxk.3	+	20	3394	c.3235_splice	c.e20+1	p.G1079_splice		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1079							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CGTTACTAAAGGTAAGCACAT	0.502000														31			20		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75553447	75553447	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75553447C>T	uc001jvj.3	+	10	2670	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	KIAA0913_uc001jve.3_Silent_p.P805P|KIAA0913_uc009xrl.3_Silent_p.P805P|KIAA0913_uc001jvf.3_Silent_p.P805P|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.P228P|KIAA0913_uc010qkr.2_Silent_p.P228P	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	805							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CCAACCCACCCGACCTCAAGG	0.627000														56			17		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:46252598C>T	uc011bzc.1	-	9	1510	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	GABRA2_uc003gxc.3_Missense_Mutation_p.M361I|GABRA2_uc010igc.2_Missense_Mutation_p.M361I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398000														46			13		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166588	180166588	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:180166588C>T	uc003mmf.1	-	0	471	c.471G>A	c.(469-471)ctG>ctA	p.L157L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTCTGGATCAGAGAGTTCA	0.557000														8			9		0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39713525	39713525	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:39713525G>A	uc003axi.3	-	2	374	c.306C>T	c.(304-306)ttC>ttT	p.F102F	RPL3_uc003axh.3_Silent_p.F102F|RPL3_uc003axj.3_5'UTR|RPL3_uc011aoj.1_Silent_p.F102F	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	102					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome	p.F102F(2)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					AGACAGTCTTGAAGGTCCGGA	0.542000														152			70		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110113806	110113806	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:110113806G>A	uc003ptt.2	+	20	2613	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	FIG4_uc011eau.1_Missense_Mutation_p.E523K	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	800					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ACCCATGAAGGAGCTATATGG	0.323000														67			27		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86087057	86087057	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:86087057G>A	uc002blv.1	+	4	703	c.533G>A	c.(532-534)aGg>aAg	p.R178K	AKAP13_uc002blt.1_Missense_Mutation_p.R178K|AKAP13_uc002blu.1_Missense_Mutation_p.R178K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	178					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGACTGCTGAGGTTGACGTGG	0.547000														31			12		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238551	48238551	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:48238551C>T	uc010rhs.2	+	0	190	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTAGCTGCCTGTCCTTGGT	0.498000														141			31		0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115889119	115889119	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:115889119C>T	uc003vho.3	+	2	374	c.159C>T	c.(157-159)gtC>gtT	p.V53V	TES_uc011kmx.2_Silent_p.V53V|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.V44V|TES_uc003vhp.3_Silent_p.V44V|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	53					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGCATGATGTCCTCTTGAGCA	0.338000														105			27		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317024	113317024	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:113317024C>T	uc003ynu.3	-	51	8351	c.8192G>A	c.(8191-8193)gGa>gAa	p.G2731E	CSMD3_uc003yns.3_Missense_Mutation_p.G1933E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2691E|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2731	Sushi 16.					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						AGGACCTAGTCCATGATAACC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				73			81		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617056	48617056	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:48617056C>T	uc003ctz.2	-	57	5201	c.5200G>A	c.(5200-5202)Ggt>Agt	p.G1734S	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1734	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGATCACCCTTGGGCCCT	0.627000														23			7		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53088463	53088463	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:53088463C>T	uc001saw.3	-	4	1056	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	KRT77_uc009zmi.3_Missense_Mutation_p.E101K	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	343	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCAATCAGTTCATACTGGGTC	0.567000														30			15		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627938	30627938	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:30627938G>A	uc003nqz.3	-	9	1838	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	DHX16_uc003nqy.3_Silent_p.F61F|DHX16_uc011dmo.2_Silent_p.F482F	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	542	Helicase ATP-binding.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GCTCAGGTCGGAAGCGAGCAA	0.542000														77			22		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449902	91449902	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:91449902G>A	uc001tbl.3	-	1	776	c.157C>T	c.(157-159)Cct>Tct	p.P53S		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	53	Cys-rich.|LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAAGCAGTAGGAAAACTGGGT	0.383000														61			13		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2087471	2087471	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:2087471C>T	uc003ger.2	-	19	2078	c.2066_splice	c.e19-1	p.G689_splice	POLN_uc010icg.1_Splice_Site_p.G137_splice|POLN_uc010ich.1_Splice_Site_p.G221_splice	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	689					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCGCTCCTTCCCTGTCAGTCA	0.527000								DNA polymerases (catalytic subunits)						70			23		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123010056	123010056	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:123010056G>A	uc003egh.2	-	17	3231	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I	ADCY5_uc021xdd.1_Silent_p.I727I|ADCY5_uc003egg.2_Silent_p.I735I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1077	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGAAGTTGGCGATGGAGGCGA	0.582000														56			16		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670333	127670333	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:127670333C>T	uc003vmk.3	-	1	498	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.G121S	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	121						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGGCCAGGCCGTTGAAGGCC	0.622000														94			15		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643311	37643311	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:37643311G>A	uc002ofo.1	-	4	1721	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	ZNF585A_uc002ofm.1_Missense_Mutation_p.S442F|ZNF585A_uc002ofn.1_Missense_Mutation_p.S442F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S442C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCACATTTGGAACATATATA	0.413000														51			12		0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43618130	43618130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:43618130G>A	uc003ovx.2	+	1	315	c.246G>A	c.(244-246)tgG>tgA	p.W82*	RSPH9_uc003ovw.2_Nonsense_Mutation_p.W82*	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCACAGAGTGGAGCCTCTTGC	0.537000									Kartagener syndrome					34			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312198	113312199	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:113312198_113312199CC>TT	uc010mtz.3	-	1	1054_1055	c.717_718GG>AA	c.(715-720)aaggag>aaAAag	p.E240K	SVEP1_uc010mua.1_Missense_Mutation_p.E240K|SVEP1_uc004beu.2_Missense_Mutation_p.E240K|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	240	VWFA.				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						CAGTGCTCCTCCTTTGGGGTGG	0.475000														21			3		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166914029	166914029	+	Silent	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:166914029T>A	uc003irh.2	+	2	1001	c.354T>A	c.(352-354)atT>atA	p.I118I	TLL1_uc021xud.1_Silent_p.I118I|TLL1_uc011cjn.2_Silent_p.I118I|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	118					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TAAGAAGAATTGGCTTTGGTA	0.363000														41			9		0	0	1	0	0
GPHA2	170589	broad.mit.edu	37	11	64702576	64702576	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:64702576C>G	uc001oca.3	-	2	230	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R		NM_130769	NP_570125	Q96T91	GPHA2_HUMAN	Homo sapiens glycoprotein hormone alpha 2 (GPHA2), mRNA.	59						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TCACAGTGGCCCACACAGGCC	0.597000														23			11		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467063	56467063	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:56467063G>A	uc002qmh.3	+	2	1710	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	NLRP8_uc010etg.3_Missense_Mutation_p.G547R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	547						cytoplasm	ATP binding	p.G547R(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTCCCAGAGGAAGCAAAAG	0.468000														39			27		0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147034	57147034	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:57147034C>T	uc001njv.2	-	2	418	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	103					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTGGACTTCCCTGCACTTC	0.527000														76			26		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669881	67669881	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:67669881C>T	uc001xja.2	+	3	520	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	77										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ATCTGTTTTTCCAGCTCCACC	0.473000														26			9		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166388935	166388935	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:166388935G>A	uc003irg.4	+	2	877	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	200					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.Y199C(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGTGTACGTGAATGAGAAAG	0.433000														53			13		0	0	1	0	0
C11orf95	65998	broad.mit.edu	37	11	63533328	63533328	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:63533328C>T	uc010rmv.2	-	1	607	c.588G>A	c.(586-588)gaG>gaA	p.E196E	C11orf95_uc001nxs.3_Silent_p.E82E	NM_001144936	NP_001138408	C9JLR9	CK095_HUMAN	Homo sapiens chromosome 11 open reading frame 95 (C11orf95), mRNA.	196	Glu-rich.					intracellular	zinc ion binding										cctcctcctcctcttcttcct	0.682000														2			2		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136647	56136647	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:56136647G>A	uc002xyn.4	+	1	343	c.180G>A	c.(178-180)atG>atA	p.M60I	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	60			M -> T (in dbSNP:rs28383586).		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			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)			TGGGCCAGATGGAGGAAGAGG	0.602000														86			17		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153468117	153468117	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:153468117G>A	uc002tye.3	+	10	1427	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	354	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CGAATACTTGGACGTGAGTAT	0.383000														7			3		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428739	142428739	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:142428739G>A	uc011ksk.1	+	1	116	c.99G>A	c.(97-99)agG>agA	p.R33R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		TAGTCAAAAGGACGGGAGAGA	0.473000														39			8		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39781189	39781189	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:39781189C>T	uc021olt.1	+	25	3342	c.3290C>T	c.(3289-3291)aCc>aTc	p.T1097I	MACF1_uc021ols.1_Missense_Mutation_p.T1097I|MACF1_uc001cdc.2_Missense_Mutation_p.T1097I|MACF1_uc001cda.1_Missense_Mutation_p.T1005I|MACF1_uc009vvq.1_Missense_Mutation_p.T154I|MACF1_uc001cdb.1_Missense_Mutation_p.T184I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1097					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGCAGCACACCCAGGAGGAT	0.413000														97			27		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996520	19996520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:19996520G>A	uc002ktv.1	-	0	1359	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	419						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTTCTTTTGATAAAAATGA	0.373000														62			17		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70464999	70464999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:70464999C>T	uc011caq.2	-	3	1575	c.1459G>A	c.(1459-1461)Gga>Aga	p.G487R	UGT2A1_uc010ihu.3_Missense_Mutation_p.G321R|UGT2A1_uc003hem.4_Missense_Mutation_p.G277R|UGT2A1_uc010ihs.3_Missense_Mutation_p.G286R|UGT2A1_uc021xox.1_Missense_Mutation_p.G286R|UGT2A1_uc010iht.3_Missense_Mutation_p.G277R	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	277					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						CAGTGCAATCCTCCAACAAAC	0.353000														27			5		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159789428	159789428	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:159789428T>C	uc003iqe.4	+	12	1823	c.1640T>C	c.(1639-1641)gTt>gCt	p.V547A		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	547	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGTGACCAAGTTTTAAATGGG	0.498000														36			11		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60951769	60951769	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:60951769C>T	uc001xez.4	-	1	138	c.28G>A	c.(28-30)Gac>Aac	p.D10N	C14orf39_uc010apo.3_5'UTR	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	10										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAAAGTCTGTCCAAACTGACA	0.284000														50			18		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:8718506C>T	uc002knr.2	+	2	200	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SOGA2_uc002knq.2_Missense_Mutation_p.R20W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	371																	GCAGGAACTTCGGCGAGAACT	0.488000														94			19		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621205	49621205	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:49621205C>T	uc002xwa.4	-	2	1208	c.913G>A	c.(913-915)Gac>Aac	p.D305N		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	305						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACCAGGTCGATCAGCGTC	0.677000														11			3		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428721	142428721	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:142428721G>A	uc011ksk.1	+	1	98	c.81G>A	c.(79-81)tcG>tcA	p.S27S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCAGAGCTCGAGATATCTAG	0.453000														14			29		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:179620128G>A	uc010pnp.2	+	11	2445	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413000														82			64		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666334	45666334	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45666334G>A	uc002zeg.1	-	11	1591	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	DNMT3L_uc002zeh.1_Silent_p.L370L	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	369					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCTTAGGGGGAGAAAGCAGT	0.448000														48			9		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289194	125289194	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125289194G>A	uc004bmn.1	-	0	379	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	127					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						TAGCAGAGGGGGTGGCAAATG	0.527000														37			16		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383316	78383316	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:78383316A>G	uc001dic.4	+	2	390	c.93A>G	c.(91-93)gtA>gtG	p.V31V	NEXN_uc001dia.3_Silent_p.V31V|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.4_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	31					regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGGTGATGTAAAGGATAAGT	0.343000														41			10		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275098	71275098	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:71275098C>T	uc003hfi.3	+	3	226	c.52_splice	c.e3-1	p.P18_splice		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	18					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCTCCACAGCCCAGTGAGAGT	0.393000														27			6		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130005576	130005576	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:130005576C>T	uc010sby.2	+	12	1960	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	APLP2_uc001qfp.3_Silent_p.P601P|APLP2_uc001qfq.3_Silent_p.P545P|APLP2_uc010sbz.2_Silent_p.P389P|APLP2_uc001qfr.3_Silent_p.P367P|APLP2_uc001qfs.3_Silent_p.P372P|APLP2_uc021qsg.1_Silent_p.P611P|APLP2_uc001qfv.3_Silent_p.P492P|DQ600312_uc021qsh.1_5'Flank	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	601					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTCCACCCCTTCCACCCCT	0.577000														60			27		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39746024	39746024	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:39746024G>A	uc003axq.4	+	0	71	c.9G>A	c.(7-9)ggG>ggA	p.G3G	TAB1_uc003axo.4_Silent_p.G3G|TAB1_uc003axr.3_5'UTR	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGATGGAAGGGGGTGCGTACG	0.786000														13			5		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702200	60702200	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:60702200C>T	uc001nqi.3	+	8	1996	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	TMEM132A_uc001nqj.3_Silent_p.V600V	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	600						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGGCCGTGTCGTGGTGGGCC	0.667000														18			4		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157738306	157738306	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:157738306C>T	uc001fre.2	-	4	840	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E261K|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	261	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTGGGATCTCCAGCTCTGCT	0.522000														155			26		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3040189	3040189	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:3040189C>T	uc003ggn.1	+	14	2087	c.1632C>T	c.(1630-1632)acC>acT	p.T544T	GRK4_uc003ggo.1_Intron|GRK4_uc003ggp.1_Silent_p.T512T|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	544						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACATACATACCCCGGTTTCCA	0.373000														57			19		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1006708	1006708	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:1006708C>T	uc021qss.1	+	24	7732	c.7089C>T	c.(7087-7089)acC>acT	p.T2363T	WNK1_uc001qio.4_Silent_p.T2103T|WNK1_uc021qst.1_Silent_p.T2355T|WNK1_uc001qip.4_Silent_p.T1855T|WNK1_uc001qir.4_Silent_p.T1276T|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2103					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.F2362L(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTGTATACCAAACTGGGCA	0.448000														41			8		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967008	81967008	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:81967008A>C	uc003hmg.4	+	1	753	c.433A>C	c.(433-435)Agt>Cgt	p.S145R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	145					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						CATCAGCCTGAGTTGTCCAGT	0.433000														71			14		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:41228901G>A	uc001zng.2	+	8	2052	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	572					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587000														50			12		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351005	40351005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:40351005G>A	uc003gva.1	+	3	488	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	158					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGTGTGGTGGATGTCACCTA	0.512000														98			29		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469977	72469977	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:72469977G>A	uc002jkv.3	+	1	664	c.343G>A	c.(343-345)Gat>Aat	p.D115N	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	115	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGACTTTCATGATCCCGTTGT	0.562000														48			10		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784034	159784034	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159784034G>A	uc001fud.4	+	7	1141	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	FCRL6_uc001fuc.2_Missense_Mutation_p.E374K|FCRL6_uc009wsz.1_Missense_Mutation_p.E272K|FCRL6_uc009wta.3_Missense_Mutation_p.E367K	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	367						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGGAAAGATGAAGGTGTTGT	0.463000														53			47		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945557	7945557	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:7945557C>T	uc009zfy.1	+	1	379	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	55					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTCTCCTCTTCCTTCCTCCAT	0.373000														128			36		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082755	125082755	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:125082755G>A	uc003yqw.3	+	29	4088	c.3882G>A	c.(3880-3882)tgG>tgA	p.W1294*	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1294						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)			TTGAAGACTGGGTGAAAACTT	0.418000														179			33		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196554126	196554126	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:196554126C>T	uc003fwy.4	+	13	1732	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	470	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAACTTTCCCCAATATTTC	0.348000														45			25		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42263510	42263510	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:42263510C>T	uc001uyj.3	-	33	4181	c.4111G>A	c.(4111-4113)Gtt>Att	p.V1371I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1371						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGAAAACCAACAACTATTGTA	0.363000														44			11		0	0	1	0	0
CD99P1	401577	broad.mit.edu	37	X	2541473	2541473	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:2541473C>T	uc004cqi.2	+	7		c.690C>T			CD99P1_uc004cqj.2_Non-coding_Transcript					Homo sapiens CD99 molecule pseudogene 1 (CD99P1), transcript variant 2, non-coding RNA.																		AAATCCAAACCCCAAGCAGCC	0.458000														32			8		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610432	54610432	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:54610432G>A	uc022adk.1	+	0	414	c.9G>A	c.(7-9)ggG>ggA	p.G3G	VSTM2A_uc010kzf.3_Silent_p.G3G	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	3						extracellular region		p.M2_G3>IW(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GAATGATGGGGATCTTTTTGG	0.443000														55			62		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049417	8049417	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:8049417G>A	uc002gkd.3	-	16	2315	c.2077C>T	c.(2077-2079)Cca>Tca	p.P693S	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.P677S	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	693	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTTCCGTGGGGTGGCCCCC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						43			24		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68007843	68007843	+	Missense_Mutation	SNP	C	T	T	rs114953032	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:68007843C>T	uc003xxi.3	+	7	962	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	CSPP1_uc003xxg.1_Missense_Mutation_p.R303C|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.R276C|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	311						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373000														77			12		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2582803	2582803	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:2582803C>T	uc002wgf.1	+	10	1284	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	TMC2_uc002wgg.1_Silent_p.I407I|TMC2_uc010zpw.1_Silent_p.I255I|TMC2_uc010zpx.1_Silent_p.I254I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	423						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						AAGAAAATATCCATCTGACAA	0.403000														76			18		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487207	131487207	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:131487207C>T	uc002trv.2	+	0	565	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	161						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)					CCTTCATGTCCCATGGGGCTG	0.607000														33			8		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148819	70148819	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:70148819G>A	uc004dyn.3	-	2	578	c.404C>T	c.(403-405)gCt>gTt	p.A135V	SLC7A3_uc004dyo.3_Missense_Mutation_p.A135V	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	135					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTGTCAAAAGCAGAGCTCCA	0.537000														18			20		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95022473	95022473	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:95022473G>A	uc004art.1	-	17	2088	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S	IARS_uc004ars.1_Missense_Mutation_p.P456S|IARS_uc004aru.3_Missense_Mutation_p.P611S|IARS_uc010mqr.2_Missense_Mutation_p.P501S|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	611					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATGGAAACTGGATCTGGATAA	0.378000														108			20		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871781	8871781	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:8871781G>A	uc002qzc.2	-	29	4567	c.4385C>T	c.(4384-4386)tCa>tTa	p.S1462L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.S1363L|KIDINS220_uc002qzb.2_Missense_Mutation_p.S316L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1462					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)					AACCCCTGATGATGAATAATC	0.458000														75			26		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687178	68687178	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:68687178C>T	uc001jmz.1	+	1	1054	c.504C>T	c.(502-504)tcC>tcT	p.S168S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.S168S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	168						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTCTAACTCCCTGAGAACCA	0.483000														80			28		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51019885	51019885	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:51019885G>A	uc003bmv.3	-	3	763	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Intron|CHKB_uc003bmu.3_Missense_Mutation_p.T61I|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	182					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGGCTCCTTGGTGAAAGGCAT	0.567000														29			11		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754444	31754444	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:31754444G>A	uc002rnw.1	-	4	699	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	211					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AGTGCTGGGAGGGACCAAGTG	0.473000														36			11		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75985519	75985519	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:75985519G>A	uc002baw.3	-	1	237	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	48	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAGGTCTATGTCGGTCAGAG	0.617000														10			8		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769427	51769428	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:51769427_51769428CC>TT	uc001jix.4	+	7	1940_1941	c.1542_1543CC>TT	c.(1540-1545)tcccgt>tcTTgt	p.R515C	DQ577099_uc021pqm.1_5'Flank	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	515					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCACCTTTCCCGTGTGCGATC	0.525000														177			68		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367241	25367241	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:25367241G>A	uc001upr.3	+	9	1038	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	RNF17_uc010tdd.1_Missense_Mutation_p.E192K|RNF17_uc010tde.2_Missense_Mutation_p.E333K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E272K|RNF17_uc001upq.1_Missense_Mutation_p.E333K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	333					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAACAAAAAGGAACTTTCTTG	0.358000														77			17		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675922	25675922	+	Silent	SNP	C	T	T	rs146575036		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:25675922C>T	uc003grr.3	+	10	1302	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SLC34A2_uc003grs.3_Silent_p.F406F|SLC34A2_uc010iev.3_Silent_p.F406F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	407					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	p.F407F(2)	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)				TTCCAGATTTCCCCTTTCCCT	0.577000			T	ROS1	NSCLC									35			14		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73849826	73849826	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:73849826C>T	uc001ouu.2	-	4	1121	c.894G>A	c.(892-894)aaG>aaA	p.K298K	C2CD3_uc001ouv.2_Silent_p.K298K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	298						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACTGTGACTCTTGGCAACTG	0.428000														84			40		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435931	50435931	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:50435931C>T	uc010enq.2	+	3	1013	c.431C>T	c.(430-432)tCc>tTc	p.S144F	IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.S144F|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	144	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCCCCTGTCCCTCCCCTCC	0.657000														15			3		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461833	5461833	+	Silent	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5461833C>A	uc010qze.2	-	0	951	c.912G>T	c.(910-912)ggG>ggT	p.G304G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTGAGAATCCCTTTGCGGA	0.463000														75			21		1.1804e-14	1.19889e-14	1	1	0
STK24	8428	broad.mit.edu	37	13	99127538	99127538	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:99127538G>A	uc001vnm.1	-	3	676	c.441C>T	c.(439-441)ctC>ctT	p.L147L	STK24_uc001vnn.1_Silent_p.L135L|STK24_uc010tim.1_Silent_p.L116L	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	147	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTCCGAATGGAGATAATCGA	0.393000														48			15		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75276256	75276256	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75276256G>A	uc001juo.3	-	17	3945	c.3928C>T	c.(3928-3930)Caa>Taa	p.Q1310*	USP54_uc010qkk.2_Nonsense_Mutation_p.Q492*|USP54_uc001juk.3_Nonsense_Mutation_p.Q398*|USP54_uc001jul.3_Nonsense_Mutation_p.Q398*|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1310					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCTGTGTCTTGGTTCCAATGT	0.522000														65			15		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745899	57745899	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:57745899G>A	uc010bfw.3	+	7	2266	c.2073G>A	c.(2071-2073)atG>atA	p.M691I	CGNL1_uc002aeg.3_Missense_Mutation_p.M691I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	691						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGTGAAGATGGAACGGGAGC	0.527000														29			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052378	90052378	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:90052378G>A	uc003kju.3	+	55	11784	c.11688G>A	c.(11686-11688)atG>atA	p.M3896I	GPR98_uc003kjt.3_Missense_Mutation_p.M1602I|GPR98_uc003kjv.3_Missense_Mutation_p.M1496I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3896					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)		GGCCCGGAATGGAAATAGCTG	0.408000														45			19		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181360	3181360	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:3181360G>A	uc002fvg.3	-	0	909	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	290					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GCATAGGGTTGATAACAGTGT	0.453000														45			17		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838270	22838270	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:22838270G>A	uc001bft.2	+	11	2615	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	ZBTB40_uc001bfu.2_Missense_Mutation_p.D702N|ZBTB40_uc009vqi.1_Missense_Mutation_p.D590N|ZBTB40_uc001bfv.1_Missense_Mutation_p.D331N	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	702					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCAAAGAAGACAGCCAGCC	0.483000														28			4		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42441939	42441939	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:42441939C>T	uc001zoz.3	-	10	1123	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.G95E|PLA2G4F_uc010bcr.3_Missense_Mutation_p.G95E|PLA2G4F_uc010bcs.3_Missense_Mutation_p.G131E	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	344	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCACTCAATCCCAGCACTTG	0.572000														16			10		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403167	117403167	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117403167G>A	uc001prh.1	-	3	764	c.762C>T	c.(760-762)tcC>tcT	p.S254S	DSCAML1_uc001pri.1_Silent_p.S58S	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	194	Ig-like C2-type 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)		AGCGATAGGTGGAGAGGGCGT	0.552000														47			20		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28229730	28229730	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:28229730G>A	uc009xky.3	-	12	1846	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	ARMC4_uc010qds.2_Missense_Mutation_p.A108V|ARMC4_uc010qdt.2_Missense_Mutation_p.A275V|ARMC4_uc001itz.3_Missense_Mutation_p.A583V|ARMC4_uc010qdu.1_Missense_Mutation_p.A275V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	583							binding	p.A583T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTAGTAGAGCAACCTATAA	0.448000														57			12		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173125	5173125	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5173125C>T	uc010qyy.2	-	0	475	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	159					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATGGGGCTACAAGAATA	0.463000														64			31		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391395	48391395	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48391395A>G	uc001rqu.3	-	6	706	c.525T>C	c.(523-525)ctT>ctC	p.L175L	COL2A1_uc001rqv.3_Silent_p.L106L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	175					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)	TTACTCCACCAAgaccagggg	0.602000														22			8		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339804	116339804	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:116339804G>A	uc003vij.3	+	1	853	c.666G>A	c.(664-666)acG>acA	p.T222T	MET_uc022akk.1_Silent_p.T222T|MET_uc010lkh.3_Silent_p.T222T|MET_uc011knc.1_Silent_p.T222T|MET_uc011knd.2_Silent_p.T222T|MET_uc011knf.2_Silent_p.T222T|MET_uc011kne.2_Silent_p.T222T|MET_uc011kng.1_Silent_p.T222T|MET_uc011knh.1_Silent_p.T222T|MET_uc011kni.2_Silent_p.T222T|MET_uc003vii.1_Silent_p.T241T|MET_uc010lkg.3_Silent_p.T222T|MET_uc011kmz.1_Silent_p.T222T|MET_uc011kna.1_Silent_p.T222T|MET_uc011knb.1_Silent_p.T222T	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	222	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.E221G(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)			TAAAGGAAACGAAAGATGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					149			257		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36117968	36117968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:36117968G>A	uc004ddk.1	+	6	1010	c.824G>A	c.(823-825)tGg>tAg	p.W275*		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	275						integral to membrane		p.A274E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AAACGGGCATGGACAGATGTA	0.333000														27			17		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382452	56382452	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56382452C>T	uc002ivx.4	-	29	6385	c.5514G>A	c.(5512-5514)agG>agA	p.R1838R	BZRAP1_uc002ivv.3_Silent_p.R68R|BZRAP1_uc002ivw.3_Silent_p.R70R|BZRAP1_uc010dcs.3_Silent_p.R1778R|BZRAP1_uc010wnt.2_Silent_p.R1829R	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1838						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGGGTTCCCTGTCCAGGC	0.647000														29			17		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621549	31621549	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:31621549C>T	uc002rnv.1	-	4	402	c.323G>A	c.(322-324)aGc>aAc	p.S108N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	108					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			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)	GGAGCCGTGGCTTTTGGCAAT	0.552000														107			32		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080033	54080033	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:54080033T>A	uc002qbx.1	+	6	1653	c.219T>A	c.(217-219)gaT>gaA	p.D73E	ZNF331_uc002qby.1_Missense_Mutation_p.D73E|ZNF331_uc002qbz.1_Missense_Mutation_p.D73E|ZNF331_uc010eqr.1_Missense_Mutation_p.D73E|ZNF331_uc002qca.1_Missense_Mutation_p.D73E|ZNF331_uc021uzg.1_Missense_Mutation_p.D73E|ZNF331_uc021uzh.1_Missense_Mutation_p.D73E|ZNF331_uc002qcb.1_Missense_Mutation_p.D73E|ZNF331_uc002qcc.1_Missense_Mutation_p.D73E|ZNF331_uc002qcd.1_Missense_Mutation_p.D73E	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	73	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)		GGAATTCAGATAGAAGAAGTA	0.383000			T	?	follicular thyroid adenoma									31			14		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82031727	82031727	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:82031727C>T	uc003hmh.2	-	13	1828	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	PRKG2_uc011ccf.1_Silent_p.Q185Q|PRKG2_uc011ccg.1_Silent_p.Q185Q|PRKG2_uc011cch.1_Silent_p.Q576Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	605	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCATGTTTTCTGTCCAGACC	0.418000														47			17		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230520	38230520	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:38230520C>T	uc002ohe.3	-	4	940	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	ZNF573_uc010efs.2_Missense_Mutation_p.E204K|ZNF573_uc002ohd.3_Missense_Mutation_p.E289K|ZNF573_uc002ohf.3_Missense_Mutation_p.E233K|ZNF573_uc002ohg.3_Missense_Mutation_p.E203K|ZNF573_uc021utv.1_Missense_Mutation_p.E203K	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGCCCATGTTCAACAAGATTT	0.403000														75			12		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98383249	98383249	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:98383249G>A	uc001kmq.3	-	10	1843	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	PIK3AP1_uc001kmo.3_Missense_Mutation_p.S171F|PIK3AP1_uc001kmp.3_Missense_Mutation_p.S394F	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	572						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCTCTCTGAGGAAACGTAGAA	0.363000														223			67		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379833	61379833	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:61379833G>A	uc002ljk.4	+	3	434	c.263G>A	c.(262-264)gGt>gAt	p.G88D	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	88					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCCGAGTTTGGTGTCTAATTC	0.413000														56			7		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456847	156456847	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:156456847G>A	uc010jij.1	-	8	1177	c.992C>T	c.(991-993)tCa>tTa	p.S331L	HAVCR1_uc011ddl.1_Missense_Mutation_p.H151Y|HAVCR1_uc003lwi.2_Missense_Mutation_p.S331L|HAVCR1_uc021ygj.1_Missense_Mutation_p.S331L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	326					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCTAAATGAAACACTGTA	0.353000														19			7		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50831994	50831994	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:50831994G>A	uc002lfe.2	+	12	2574	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	DCC_uc010xdr.1_Missense_Mutation_p.G501E|DCC_uc010dpf.2_Missense_Mutation_p.G308E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	653	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACACAAAATGGATTTATTACC	0.423000														79			15		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137226	33137226	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:33137226C>T	uc003ocx.1	-	50	3960	c.3732G>A	c.(3730-3732)caG>caA	p.Q1244Q	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.Q1158Q|COL11A2_uc003ocz.1_Silent_p.Q1137Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1244	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCTCCTGGCTGCCCCGACT	0.627000														21			12		0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47905220	47905220	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:47905220G>A	uc010igh.3	-	4	814	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	NFXL1_uc003gxp.3_Missense_Mutation_p.P213S|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.P213S	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	213						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CAAGGCCAGGGACAATCTTTC	0.398000														44			19		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291958	61291958	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:61291958G>A	uc001nrv.3	-	5	721	c.669C>T	c.(667-669)gtC>gtT	p.V223V	SYT7_uc009ynr.3_Silent_p.V298V	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	223	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATAGTCCAGGACTTGGAGGT	0.577000														45			11		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101154218	101154218	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:101154218A>T	uc003yjd.3	-	1	1000	c.264T>A	c.(262-264)aaT>aaA	p.N88K	FBXO43_uc003yje.3_Missense_Mutation_p.N54K|FBXO43_uc010mbp.2_Missense_Mutation_p.N88K	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	88					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTATCTATATTATCAAAGC	0.368000														46			9		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47068739	47068739	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:47068739G>A	uc003bhx.3	+	13	1134	c.1085_splice	c.e13-1	p.G362_splice	GRAMD4_uc010had.3_Splice_Site_p.G301_splice|GRAMD4_uc003bhy.3_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	362					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTGCCCTCAGGACTCTATGC	0.557000														46			6		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117023050	117023050	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:117023050G>A	uc003vjb.2	-	6	865	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	ASZ1_uc011kno.1_Missense_Mutation_p.H268Y|ASZ1_uc011knp.1_Missense_Mutation_p.H60Y	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	268					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.D267Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTAAAAATGTGATCTTTTTCT	0.254000														98			18		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67004014	67004014	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:67004014C>T	uc002aqf.3	+	1	1749	c.826C>T	c.(826-828)Cca>Tca	p.P276S	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.P15S	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	276	Poly-Pro.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						AGAATCTCCGCCACCTCCCTA	0.542000														115			37		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400324	40400324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:40400324G>A	uc003oph.1	-	1	994	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	177						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGCTCAGCTGGTGGAGGTTG	0.592000														55			42		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795748	46795748	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:46795748C>A	uc003bhw.1	-	9	5278	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*	CELSR1_uc011arc.1_Nonsense_Mutation_p.E81*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1760	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCACGGACTCCACATCGGAG	0.562000														60			32		2.80507e-11	2.84497e-11	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92987678	92987678	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:92987678C>T	uc003umo.3	+	27	2953	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	CCDC132_uc003ump.3_Missense_Mutation_p.S912F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.S662F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	942										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)			TGCCTGGGATCCCATATCAAT	0.378000														113			31		0	0	1	0	0
MLF1IP	79682	broad.mit.edu	37	4	185637552	185637552	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:185637552G>A	uc003iwq.3	-	6	688	c.618_splice	c.e6+1	p.S206_splice	MLF1IP_uc003iwp.3_Splice_Site|MLF1IP_uc003iwr.1_Splice_Site_p.S206_splice	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	206					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CGTTCTTACCGATTGACTTTC	0.408000														22			7		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731231	21731231	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:21731231T>G	uc002gyy.3	+	1	658	c.533T>G	c.(532-534)gTg>gGg	p.V178G				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	330	Ubiquitin-like 3.				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)		ATCGAAAATGTGAAGGCCAAG	0.537000														55			15		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	133023051	133023051	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:133023051C>T	uc003yte.3	+	22	2579	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	792						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CCTCCCAGTCCATCAGGAACA	0.428000														73			14		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159035960	159035960	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:159035960C>T	uc001ftj.1	-	3	801	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	186	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AAGAAGAATTCCTTTTCTGTA	0.368000														63			46		0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053042	49053042	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:49053042G>A	uc003cvk.1	-	11	1631	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	WDR6_uc003cvj.2_3'UTR|WDR6_uc011bby.1_3'UTR|WDR6_uc010hkn.2_3'UTR|WDR6_uc011bbz.1_3'UTR|DALRD3_uc003cvl.1_3'UTR|DALRD3_uc003cvm.1_Silent_p.L370L|DALRD3_uc010hko.1_3'UTR	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	537					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCAGTGGAGGGAGACCCAGCA	0.522000														76			36		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111873846	111873846	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:111873846C>T	uc003dyu.3	-	26	3637	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	SLC9C1_uc011bhu.2_Missense_Mutation_p.E402K|SLC9C1_uc010hqc.3_Missense_Mutation_p.E1091K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1139					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATTTACCTCCTTAACATTT	0.313000														46			11		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120876767	120876767	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:120876767G>A	uc003vjq.4	+	17	2503	c.2056_splice	c.e17-1	p.D686_splice	C7orf58_uc003vjs.4_Splice_Site_p.D686_splice|C7orf58_uc003vjt.4_Splice_Site_p.D466_splice	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	686						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTTAATGCAGGATTGTGGTT	0.313000														146			20		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229736	87229736	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:87229736C>T	uc003ydq.1	-	2	1240	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SLC7A13_uc003ydr.1_Missense_Mutation_p.R372Q	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	381						integral to membrane	amino acid transmembrane transporter activity	p.R380S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTGGTATCTCCGCCTTAGTAT	0.289000														53			5		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186330964	186330964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:186330964C>T	uc003fqk.4	+	0	115	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	AHSG_uc003fqj.3_Nonsense_Mutation_p.Q12*	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	12					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TTGTCTTGCTCAGCTCTGGGG	0.602000														30			12		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325734	78325734	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:78325734C>T	uc003kfs.3	-	10	1813	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	DMGDH_uc011cte.1_Missense_Mutation_p.D453N|DMGDH_uc011ctf.1_Missense_Mutation_p.D402N|DMGDH_uc011ctg.1_Missense_Mutation_p.D223N	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	603					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TACCTAAGATCATGAAGTTCT	0.373000														10			12		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008892	31008892	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31008892G>A	uc010cad.2	-	4	397	c.285C>T	c.(283-285)atC>atT	p.I95I	STX1B_uc010vfd.2_Silent_p.I95I	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	95					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TGCTTTGCTCGATCGCTGCGG	0.692000														20			4		0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8983221	8983221	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:8983221G>A	uc003brd.3	-	4	624	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	178					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GATCTGGAGCGATCTCTTCTA	0.428000								Rad6 pathway						15			12		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997130	46997130	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:46997130C>T	uc002pes.2	-	0	2040	c.1593G>A	c.(1591-1593)agG>agA	p.R531R	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	531										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCGGGGCTTCCTGGATGCCC	0.751000														9			4		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977696	46977696	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46977696G>A	uc003oyt.3	-	10	1674	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L	GPR110_uc011dwl.2_Missense_Mutation_p.P180L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTGGAAACGGGTAGAATGTT	0.418000														60			41		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		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						TAATAAGAACGATTTTTCCCC	0.408000														73			31		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206660	45206660	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:45206660G>A	uc010xxd.2	+	2	285	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	27										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TATCACCCTGGAGCCTGCCCA	0.602000														23			7		0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836376	4836376	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:4836376C>T	uc021tnz.1	+	1	552	c.477C>T	c.(475-477)ctC>ctT	p.L159L	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Silent_p.L159L	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	159										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CCCCAGGGCTCCTGACGCCCA	0.607000														50			14		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592138	38592138	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:38592138G>A	uc021wvo.1	-	26	5777	c.5725C>T	c.(5725-5727)Cag>Tag	p.Q1909*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.Q1876*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.Q1855*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.Q1891*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.Q1908*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.Q1909*|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Nonsense_Mutation_p.Q1721*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.Q1775*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1909	IQ.				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)	AAGGCTCTCTGGATAACCATG	0.612000														76			17		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650576	81650576	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:81650576G>A	uc021ssk.1	-	6	657	c.657C>T	c.(655-657)atC>atT	p.I219I	TMC3_uc021ssj.1_Silent_p.I219I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.I219I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	219						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTCTCCCGATCTTCCTCT	0.493000														89			33		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342657	117342657	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:117342657G>A	uc001prh.1	-	14	3062	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	960	Fibronectin type-III 2.				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)		AGTACATGCGGATGCTGTACA	0.572000														55			16		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178426954	178426954	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:178426954C>T	uc001glq.3	+	13	3291	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	RASAL2_uc001glr.3_Missense_Mutation_p.P702S|RASAL2_uc009wxc.3_Missense_Mutation_p.P216S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	702					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTAGCCTTCCTAATGGTCG	0.498000														53			44		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836573	55836573	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:55836573C>T	uc001xbx.2	-	9	1279	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.E302K	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	415					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCATCTGATTCTCCAGCAACT	0.537000														55			20		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591832	124591832	+	Missense_Mutation	SNP	G	A	A	rs139868556	byFrequency	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:124591832G>A	uc001lgs.3	-	10	2737	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	CUZD1_uc001lgp.3_Missense_Mutation_p.R315W|CUZD1_uc009yad.3_Missense_Mutation_p.R315W|CUZD1_uc009yaf.3_Missense_Mutation_p.R230W|CUZD1_uc001lgr.3_Missense_Mutation_p.R315W|CUZD1_uc010qty.2_Missense_Mutation_p.R315W|CUZD1_uc009yae.3_Missense_Mutation_p.R315W|CUZD1_uc010qtz.2_Missense_Mutation_p.R596W	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	596					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TAGTCTGCCCGTTGATTTACA	0.443000														187			46		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691761	106691761	+	RNA	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:106691761G>A	uc021ser.1	-	1156		c.25232C>T								Parts of antibodies, mostly variable regions.																		TCTGGAGATGGTGAATCGGCC	0.527000														187			69		0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21740034	21740034	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21740034G>A	uc002kux.3	+	5	2248	c.2096_splice	c.e5+1		CABYR_uc002kuy.3_Splice_Site_p.*380_splice|CABYR_uc002kuz.3_Splice_Site_p.*222_splice|CABYR_uc002kva.3_Splice_Site|CABYR_uc002kvb.3_Splice_Site_p.*282_splice|CABYR_uc002kvc.3_Splice_Site_p.*380_splice|CABYR_uc010dlw.3_Splice_Site	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGAAAACTGGTAGGTACACT	0.408000														46			22		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37630380	37630380	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:37630380G>A	uc002xjh.3	+	8	680	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	DHX35_uc010zwa.2_Missense_Mutation_p.R62Q|DHX35_uc010zwc.2_Missense_Mutation_p.R186Q|DHX35_uc010zwb.2_Missense_Mutation_p.R62Q	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	217	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TAGAAATTCCGGGATTTCTTT	0.323000														103			22		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785271	60785271	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:60785271C>T	uc001nqq.3	+	10	1848	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	CD6_uc001nqp.3_Silent_p.N541N|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.N509N|CD6_uc001nqt.3_Silent_p.N500N	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	541					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAACTGCCAACCCTGGACACT	0.542000														94			15		0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134303966	134303966	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:134303966C>T	uc010kgg.3	+	3	835	c.230C>T	c.(229-231)gCt>gTt	p.A77V	TBPL1_uc003qel.3_Missense_Mutation_p.A77V	NM_001253676	NP_001240605	P62380	TBPL1_HUMAN	Homo sapiens TBP-like 1 (TBPL1), transcript variant 1, mRNA.	77					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GAAGAAGAAGCTAAATTTGGT	0.328000														43			7		0	0	1	0	0
PLAC1L	219990	broad.mit.edu	37	11	59812219	59812219	+	Missense_Mutation	SNP	G	A	A	rs140171460		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:59812219G>A	uc001nol.3	+	2	504	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	107						extracellular region		p.E107K(2)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGACCCTCAGGAAATCCATTT	0.423000														62			24		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979487	68979487	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:68979487C>T	uc009xpn.1	-	5	844	c.721G>A	c.(721-723)Gtt>Att	p.V241I	CTNNA3_uc001jmw.2_Missense_Mutation_p.V241I|CTNNA3_uc001jmx.4_Missense_Mutation_p.V241I|CTNNA3_uc009xpo.1_Missense_Mutation_p.V101I|CTNNA3_uc001jna.2_Missense_Mutation_p.V253I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	241					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTCACAAACTGTGTCCTTG	0.458000														101			31		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300663	103300663	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:103300663C>T	uc002tca.3	+	4	1435	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	431						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACCAGTTCATCATTGCCTATG	0.453000														101			29		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400858	11400858	+	Missense_Mutation	SNP	G	A	A	rs149248520		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:11400858G>A	uc003gmq.3	-	1	1095	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	HS3ST1_uc021xmg.1_Missense_Mutation_p.R258W	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	258						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCGCTGTCCCGCAGGCAGTAA	0.512000														48			13		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43797554	43797554	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:43797554G>A	uc002rsw.4	-	13	2512	c.2160C>T	c.(2158-2160)caC>caT	p.H720H	THADA_uc010far.3_5'UTR|THADA_uc002rsx.4_Silent_p.H720H|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.H430H|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Silent_p.H430H|THADA_uc002rtb.1_Silent_p.H720H|THADA_uc002rtc.4_Silent_p.H720H|THADA_uc002rtd.3_Silent_p.H720H	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	720							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAACAGAAGGGTGCTGTTTGG	0.313000														79			19		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694755	84694755	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:84694755G>A	uc003uic.3	-	5	743	c.703C>T	c.(703-705)Cac>Tac	p.H235Y	SEMA3D_uc010led.3_Missense_Mutation_p.H235Y|SEMA3D_uc010lee.1_Missense_Mutation_p.H235Y	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	235	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCCAGTAGTGCTCTGAAATG	0.378000														38			11		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977814	46977814	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46977814G>A	uc003oyt.3	-	10	1556	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	GPR110_uc011dwl.2_Missense_Mutation_p.P141S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	453					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTATTTTGGGGACACATTTTA	0.423000														63			51		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:41199882G>A	uc003jmk.2	-	3	643	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_uc003jml.1_Missense_Mutation_p.R145C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000														93			41		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176983683	176983683	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:176983683G>A	uc002ukj.3	+	2	816	c.746_splice	c.e2-1	p.E249_splice		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	249						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTTTGTTAGAGGAAATCAAGT	0.358000														32			13		0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103394775	103394775	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:103394775G>A	uc001ymg.4	+	3	253	c.220G>A	c.(220-222)Gat>Aat	p.D74N	AMN_uc001ymh.4_Missense_Mutation_p.D20N	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	74					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCCGCTGGATGGGGAACT	0.741000														5			5		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:66083654C>T	uc001dci.3	+	15	2609	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000														48			13		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208660	121208660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:121208660G>A	uc003eee.4	-	15	3247	c.3118C>T	c.(3118-3120)Cga>Tga	p.R1040*	POLQ_uc003eed.3_Nonsense_Mutation_p.R212*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1040					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCCAAGATCGAAAACTTCTG	0.408000								DNA polymerases (catalytic subunits)						50			12		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149248083	149248083	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:149248083G>A	uc002twm.4	+	11	5180	c.4183G>A	c.(4183-4185)Gga>Aga	p.G1395R	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.G653R|MBD5_uc002twp.3_Missense_Mutation_p.G445R	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1395	PWWP.					chromosome|nucleus	DNA binding|chromatin binding	p.G1395*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAAATCAAAGGACTGACTTC	0.448000														50			22		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421815	31421815	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31421815G>A	uc010cap.1	+	10	1232	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	ITGAD_uc002ebv.1_Missense_Mutation_p.E395K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	395					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGTCTCAGGAGAATGTGGA	0.592000														72			16		0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11683691	11683691	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:11683691C>T	uc003wui.3	+	4	821	c.669C>T	c.(667-669)gaC>gaT	p.D223D	FDFT1_uc003wuh.3_Silent_p.D159D|FDFT1_uc010lsa.1_Silent_p.D138D|FDFT1_uc011kxe.2_Silent_p.D159D|FDFT1_uc011kxf.2_Silent_p.D180D|FDFT1_uc011kxg.2_Silent_p.D56D|FDFT1_uc010lsb.3_Silent_p.D159D|FDFT1_uc011kxh.2_Silent_p.D159D|FDFT1_uc011kxi.2_Non-coding_Transcript|FDFT1_uc011kxj.2_Silent_p.D159D|FDFT1_uc022ary.1_Silent_p.D159D|FDFT1_uc011kxk.2_Silent_p.D138D	NM_004462	NP_004453	P37268	FDFT_HUMAN	Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), mRNA.	223					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATCTGGAAGACCAGCAAGGAG	0.423000														103			34		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003352	170003352	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:170003352G>A	uc002ues.3	-	68	12921	c.12708C>T	c.(12706-12708)atC>atT	p.I4236I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4236					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			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)	TCAAATAATCGATAGAAAGGC	0.453000														74			28		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929310	135929310	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:135929310C>T	uc004ccj.4	+	5	1306	c.969C>T	c.(967-969)atC>atT	p.I323I	GTF3C5_uc010mzz.2_Silent_p.I198I|GTF3C5_uc004cci.4_Silent_p.I323I	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	323						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATTTCCGAATCCGTTGTGGAA	0.438000														37			12		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732223	92732223	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:92732223C>T	uc003umf.3	-	2	3458	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	SAMD9_uc003umg.3_Missense_Mutation_p.G1063E|SAMD9_uc022ahg.1_Missense_Mutation_p.G1063E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1063						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTTCATTTCCTTCATCTTT	0.393000														51			10		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995266	140995266	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:140995266C>T	uc004fbt.3	+	3	2400	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L351L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	692							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)					TGTCTCCTCTCCAAATTCCTC	0.567000										HNSCC(15;0.026)				17			20		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122860	24122860	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:24122860C>T	uc002zxx.3	+	3	596	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	192					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGGGGATGTCCACTTCGACTA	0.567000														36			22		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60359334	60359334	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:60359334G>A	uc001czq.3	-	8	1503	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	500					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	p.V499D(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TACACCTGAGGAACAGCGCAG	0.468000														318			76		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11622662	11622662	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:11622662C>T	uc002gne.3	+	26	5632	c.5564C>T	c.(5563-5565)aCc>aTc	p.T1855I	DNAH9_uc010coo.3_Missense_Mutation_p.T1149I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1855	AAA 1 (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)		TGCTACATCACCCTCACCCAG	0.617000														40			8		0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186504350	186504350	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:186504350G>A	uc003fqs.3	+	6	726	c.687G>A	c.(685-687)atG>atA	p.M229I	EIF4A2_uc003fqu.3_Missense_Mutation_p.M230I|EIF4A2_uc003fqv.3_Missense_Mutation_p.M134I|EIF4A2_uc003fqw.3_Missense_Mutation_p.M134I|EIF4A2_uc011bsb.2_Missense_Mutation_p.M102I|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank|EIF4A2_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	229	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAAATTCATGAGAGATCCAA	0.353000			T	BCL6	NHL									61			11		0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32085235	32085235	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:32085235C>T	uc009vtx.2	+	3	687	c.302C>T	c.(301-303)cCg>cTg	p.P101L	HCRTR1_uc001btc.4_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.P101L|HCRTR1_uc010ogl.2_Missense_Mutation_p.P101L	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	101					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		ATCTGCCTGCCGGCCAGCCTG	0.602000														19			9		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537891	212537891	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:212537891G>A	uc002veg.1	-	13	1812	c.1714C>T	c.(1714-1716)Ccg>Tcg	p.P572S	ERBB4_uc002veh.1_Missense_Mutation_p.P572S|ERBB4_uc010zji.1_Missense_Mutation_p.P572S|ERBB4_uc010zjj.1_Missense_Mutation_p.P572S|ERBB4_uc010fut.1_Missense_Mutation_p.P572S	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.	572	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)		AGGCTTACCGGTCCATGGCAT	0.413000										TSP Lung(8;0.080)				79			25		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129937044	129937044	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:129937044C>T	uc004bqo.2	+	10	1160	c.893C>T	c.(892-894)tCc>tTc	p.S298F	RALGPS1_uc022bno.1_Missense_Mutation_p.S298F|RALGPS1_uc011mab.2_Missense_Mutation_p.S298F|RALGPS1_uc011mac.2_Missense_Mutation_p.S298F|RALGPS1_uc004bqq.4_Missense_Mutation_p.S298F	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	298					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTAGTCTCTTCCAAGGAAGAT	0.493000														78			30		0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18288552	18288552	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:18288552C>T	uc002nic.1	+	5	741	c.668C>T	c.(667-669)aCc>aTc	p.T223I	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	223				T -> A (in Ref. 3; BAC98466).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CAGCTCCTTACCCTTGTCTGC	0.582000														34			14		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946902	227946902	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:227946902C>T	uc021vxr.1	-	22	1725	c.1624_splice	c.e22-1	p.G542_splice	COL4A4_uc021vxs.1_Splice_Site_p.G542_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	542	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)		ACCATGCTTTCCCTTGGTGAA	0.413000														59			34		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236157146	236157146	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:236157146C>T	uc001hxo.3	-	12	2656	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	NID1_uc009xgd.3_Missense_Mutation_p.E719K|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	852	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGTTCTCGCTCGTGCTGGCAC	0.632000														27			8		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717804	8717804	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:8717804C>T	uc002wnb.3	+	19	2176	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	PLCB1_uc010zrb.1_Missense_Mutation_p.P624S|PLCB1_uc002wna.3_Missense_Mutation_p.P725S|PLCB1_uc002wnc.1_Missense_Mutation_p.P624S|PLCB1_uc002wnd.1_Missense_Mutation_p.P302S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	725	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTGTGAATCCTGTCTGGGA	0.388000														105			20		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085547	35085547	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:35085547C>T	uc001ziu.1	-	2	596	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	118					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCTTCTCCCGGTTGGCCTT	0.577000														99			25		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087933	92087933	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:92087933C>T	uc001pdj.4	+	0	2672	c.2655C>T	c.(2653-2655)atC>atT	p.I885I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	885	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A884T(1)		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)				CAACTGGAATCGTTTATGTAG	0.448000										TCGA Ovarian(4;0.039)				63			13		0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660119	52660119	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:52660119G>A	uc010ydj.2	-	4	1339	c.817C>T	c.(817-819)Cca>Tca	p.P273S	ZNF836_uc010ydi.2_Missense_Mutation_p.P273S	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTGATATGGCTTCCCCCTT	0.408000														52			9		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656377	240656377	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:240656377C>T	uc021plf.1	-	0	399	c.399G>A	c.(397-399)gtG>gtA	p.V133V	GREM2_uc001hys.3_Silent_p.V133V	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	133	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACTCGAGCTCCACGAGGACGG	0.617000														110			12		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57373700	57373700	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:57373700G>A	uc001cyo.2	+	8	1426	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	432	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGCTGGAGCGGTGGCTTGGC	0.493000														48			19		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413940	121413940	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:121413940C>T	uc010hrc.3	-	12	5556	c.5430G>A	c.(5428-5430)atG>atA	p.M1810I	GOLGB1_uc003eei.4_Missense_Mutation_p.M1805I|GOLGB1_uc003eej.4_Missense_Mutation_p.M1771I|GOLGB1_uc021xcy.1_Missense_Mutation_p.M1730I|GOLGB1_uc011bjm.1_Missense_Mutation_p.M1691I|GOLGB1_uc010hrd.1_Missense_Mutation_p.M1769I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1805					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTTGTGCTCATACTCAGAG	0.448000														145			52		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643972	179643972	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:179643972C>T	uc021vsy.1	-	22	4172	c.3947G>A	c.(3946-3948)gGa>gAa	p.G1316E	TTN_uc021vsz.1_Missense_Mutation_p.G1270E|TTN_uc021vta.1_Missense_Mutation_p.G1270E|TTN_uc021vtb.1_Missense_Mutation_p.G1270E|TTN_uc002unb.2_Missense_Mutation_p.G1316E|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1316	Ig-like 5.						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)			TAATGGATATCCAGACATCTT	0.303000														48			18		0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128678003	128678003	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:128678003G>A	uc004bqb.3	+	2	429	c.313G>A	c.(313-315)Gat>Aat	p.D105N	PBX3_uc004bqc.3_Intron|PBX3_uc004bqd.3_Intron|PBX3_uc011lzw.2_Missense_Mutation_p.D30N|PBX3_uc011lzx.2_Missense_Mutation_p.D16N|PBX3_uc004bqe.3_5'UTR	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	105					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.D105Y(2)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGACCCTCCCGATCCCCAGCT	0.557000														25			14		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177106	71177106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:71177106G>A	uc003tvy.3	+	10	1772	c.1772G>A	c.(1771-1773)tGg>tAg	p.W591*	WBSCR17_uc003tvz.3_Nonsense_Mutation_p.W290*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTCAGAGGTGGACCATTAAG	0.637000														46			19		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834637	61834637	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:61834637T>A	uc002yeh.3	-	3	949	c.655A>T	c.(655-657)Aac>Tac	p.N219Y	YTHDF1_uc011aaq.2_Missense_Mutation_p.N169Y	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	219										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTCCCACCGTTGCCAGAAAGG	0.562000														56			7		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:77353924G>A	uc002ffc.4	-	15	2773	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S373F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S481F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S785S(1)		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						GTAACTGGAGGAAACCTGCAG	0.537000														31			10		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71467313	71467313	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:71467313G>A	uc003hfl.3	+	5	574	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	158					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTGCAGGAAGGAGAACTGCCT	0.522000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			27		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284731	25284731	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:25284731G>A	uc010aaa.3	+	20	3248	c.2915_splice	c.e20+1	p.R972_splice	ATP12A_uc001upp.3_Splice_Site_p.R966_splice	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	966					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGTCTCTTCAGGTACTGCCTG	0.527000														81			32		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983140	57983140	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:57983140G>A	uc010rkc.2	+	0	924	c.924G>A	c.(922-924)aaG>aaA	p.K308K		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGAGGAATAAGGATATGAAAG	0.433000														127			36		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713916	42713916	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:42713916G>A	uc002osu.1	-	3	593	c.525C>T	c.(523-525)gcC>gcT	p.A175A	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Silent_p.A170A|DEDD2_uc010eid.3_Non-coding_Transcript	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	175					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GTGCGGCTGGGGCCCCTCTCC	0.652000														54			17		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124971981	124971981	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:124971981C>T	uc004blx.4	-	8	1142	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	LHX6_uc022bmw.1_Missense_Mutation_p.G141E|LHX6_uc010mvw.3_Missense_Mutation_p.G328E|LHX6_uc022bmx.1_Intron|LHX6_uc004bly.4_Intron	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	328					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						gtgcacctgcccgcactgtac	0.637000														37			25		0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99393717	99393717	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:99393717G>T	uc003hub.3	-	7	1198	c.763C>A	c.(763-765)Cag>Aag	p.Q255K	TSPAN5_uc011cdz.2_Missense_Mutation_p.Q184K	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	255						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		ACCAAATTCTGGGCCAGGCAT	0.498000														69			4		1	1	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129284279	129284280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:129284279_129284280GG>AA	uc003emx.2	-	24	4524_4525	c.4424_4425CC>TT	c.(4423-4425)gcc>gTT	p.A1475V	PLXND1_uc011blb.1_Missense_Mutation_p.A143V|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1475					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTCTTGGCGGCCGAGGCGTC	0.599000														51			18		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968748	119968748	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:119968748G>A	uc001txe.3	+	12	1896	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	477										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATCCTGGTGAAACTGCAGA	0.498000														62			27		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36087794	36087794	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:36087794C>T	uc003zyv.3	+	8	827	c.741C>T	c.(739-741)atC>atT	p.I247I	RECK_uc003zyw.3_Silent_p.I119I|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	247	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGGTCTCATCGAGGGTTGTA	0.468000														45			24		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29679304	29679304	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:29679304C>T	uc002hgg.3	+	50	7870	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	NF1_uc002hgh.3_Missense_Mutation_p.S2475F|NF1_uc010cso.3_Missense_Mutation_p.S684F|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2496					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATGGTCCTCTCCCAAAGGT	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				61			14		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														64			36		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:158323823G>A	uc001fse.3	+	0	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.G15G|CD1E_uc001fsh.3_Silent_p.G15G|CD1E_uc001fry.3_Silent_p.G15G|CD1E_uc001fsf.3_Silent_p.G15G|CD1E_uc001fsg.3_Silent_p.G15G|CD1E_uc009wsv.3_Silent_p.G15G|CD1E_uc001fsj.3_Silent_p.G15G|CD1E_uc001fsk.3_Silent_p.G15G|CD1E_uc001fsa.3_Silent_p.G15G|CD1E_uc001fsd.3_Silent_p.G15G|CD1E_uc001frz.3_Silent_p.G15G|CD1E_uc010pig.2_Silent_p.G15G|CD1E_uc001fsc.3_Silent_p.G15G|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	15			G -> E (in dbSNP:rs3180089).		antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTGGGGAAAATACAG	0.542000														43			30		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745035	90745035	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:90745035C>T	uc011lti.2	-	3	2946	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	973																	GTCCTCAATCCTTGAAACATT	0.473000														86			27		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550407	144550407	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:144550407G>A	uc003yyd.2	-	7	2176	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	716					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTGGGAGAAGGGGCAGGTCCC	0.667000														40			46		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283169	5283169	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:5283169G>A	uc010zqw.2	-	1	680	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PROKR2_uc010zqx.2_Silent_p.F224F|PROKR2_uc010zqy.2_Silent_p.F224F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	224						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGATGAAGAGGAAGTAGGACT	0.537000										HNSCC(71;0.22)				47			42		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696258	48696258	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:48696258C>T	uc002irk.1	+	32	6042	c.5670C>T	c.(5668-5670)ttC>ttT	p.F1890F	CACNA1G_uc002irj.1_Silent_p.F1856F|CACNA1G_uc002irl.1_Silent_p.F1867F|CACNA1G_uc002irm.1_Silent_p.F1856F|CACNA1G_uc002irn.1_Silent_p.F1849F|CACNA1G_uc002iro.1_Silent_p.F1856F|CACNA1G_uc002irp.1_Silent_p.F1890F|CACNA1G_uc002irq.1_Silent_p.F1867F|CACNA1G_uc002irr.1_Silent_p.F1890F|CACNA1G_uc002irs.1_Silent_p.F1879F|CACNA1G_uc002irt.1_Silent_p.F1872F|CACNA1G_uc002iru.1_Silent_p.F1856F|CACNA1G_uc002irv.1_Silent_p.F1879F|CACNA1G_uc002irw.1_Silent_p.F1867F|CACNA1G_uc002irx.1_Silent_p.F1803F|CACNA1G_uc002iry.1_Silent_p.F1792F|CACNA1G_uc002isg.1_Silent_p.F1751F|CACNA1G_uc002ish.1_Silent_p.F1758F|CACNA1G_uc002isi.1_Silent_p.F1746F|CACNA1G_uc002irz.1_Silent_p.F1796F|CACNA1G_uc002isa.1_Silent_p.F1769F|CACNA1G_uc002isd.1_Silent_p.F1778F|CACNA1G_uc002isb.1_Silent_p.F1810F|CACNA1G_uc002isc.1_Silent_p.F1792F|CACNA1G_uc002ise.1_Silent_p.F1758F|CACNA1G_uc002isf.1_Silent_p.F1785F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1890					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)	GCAGCCCCTTCCTCTGGCCTG	0.692000														8			3		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528235	61528235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:61528235G>A	uc002ydr.2	-	6	2014	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	DIDO1_uc002yds.2_Missense_Mutation_p.P568S|DIDO1_uc002ydt.2_Missense_Mutation_p.P568S|DIDO1_uc002ydu.2_Missense_Mutation_p.P568S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	568					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACTTCTTTGGCACGAGGTTT	0.577000														26			16		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881310	37881310	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:37881310C>T	uc002hso.3	+	20	2740	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	ERBB2_uc010cwa.3_Silent_p.S819S|ERBB2_uc002hsm.3_Silent_p.S804S|ERBB2_uc002hsp.3_Silent_p.S637S|ERBB2_uc010cwb.3_Silent_p.S834S|ERBB2_uc010wek.2_Silent_p.S558S|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	834	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGGGATGAGCTACCTGGAGG	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				37			12		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71840661	71840661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:71840661C>T	uc004eax.4	-	18	2352	c.2051G>A	c.(2050-2052)gGa>gAa	p.G684E	PHKA1_uc004eay.4_Missense_Mutation_p.G684E|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	684					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCTAGCCCTCCCTTCTGTGA	0.512000														16			25		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474256	55474256	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:55474256C>T	uc001cye.3	+	3	1161	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	306						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCGGGGACCTCCTCCCGGACA	0.577000														65			13		0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247264612	247264612	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:247264612G>A	uc001ice.2	-	3	632	c.459C>T	c.(457-459)atC>atT	p.I153I	ZNF669_uc001icf.2_Silent_p.I67I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	153	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I153I(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTCTGTACGATATGATTTC	0.328000														96			71		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128467387	128467387	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:128467387G>A	uc002tpg.2	-	18	3551	c.3352C>T	c.(3352-3354)Ccc>Tcc	p.P1118S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1118					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTCCTCTGGGGGGAGCACGG	0.537000														129			37		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36651026	36651026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:36651026G>A	uc003ape.3	+	2	347	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.V9I|APOL1_uc011amp.2_Missense_Mutation_p.V9I|APOL1_uc011amq.2_Missense_Mutation_p.V9I|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	9					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TTTGCTGAGAGTCTCTGTCCT	0.597000														47			36		0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95846867	95846867	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:95846867G>A	uc004atb.3	+	4	642	c.606G>A	c.(604-606)gtG>gtA	p.V202V	SUSD3_uc004atc.3_Silent_p.V189V	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	202						integral to membrane		p.V202M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCGCAGCGTGGACAAGGACC	0.592000														54			21		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15517001	15517001	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:15517001G>A	uc002yjm.3	-	8	1311	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.S383F|LIPI_uc021whh.1_Missense_Mutation_p.S407F|LIPI_uc021whi.1_Missense_Mutation_p.S248F|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Missense_Mutation_p.S378F|LIPI_uc021whf.1_Missense_Mutation_p.S413F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	413					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCATGTGGAACACTGCAG	0.308000														63			13		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127412404	127412404	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:127412404C>T	uc001liq.1	+	3	702	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	C10orf137_uc001lin.3_Missense_Mutation_p.P137S|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.P137S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTGAAAATTCCCTACAGCAA	0.343000														104			35		0	0	1	0	0
C15orf63	25764	broad.mit.edu	37	15	44093371	44093371	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:44093371A>G	uc001ztb.3	+	3	849	c.366A>G	c.(364-366)aaA>aaG	p.K122K	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Silent_p.K76K|C15orf63_uc021skf.1_Intron|C15orf63_uc001ztg.1_Intron	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	76										endometrium(1)|large_intestine(1)|ovary(1)	3						GGGAGCAGAAAGCCAAACAGG	0.473000														56			19		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21603884	21603884	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:21603884C>T	uc003svc.3	+	5	1094	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	355	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACGGAATTCCCACAGACACG	0.448000									Kartagener syndrome					37			40		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080775	23080775	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:23080775G>A	uc002dll.3	-	15	2651	c.2651C>T	c.(2650-2652)tCa>tTa	p.S884L	USP31_uc002dlk.3_Missense_Mutation_p.S156L|USP31_uc010vca.2_Missense_Mutation_p.S187L|USP31_uc010bxm.3_Missense_Mutation_p.S172L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	884	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAATCCCCTGAAAATCGGGA	0.522000														33			7		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502394	220502394	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:220502394C>T	uc002vmo.4	+	16	2917	c.2708C>T	c.(2707-2709)gCc>gTc	p.A903V	SLC4A3_uc002vmp.4_Missense_Mutation_p.A876V|SLC4A3_uc010fwm.3_Missense_Mutation_p.A426V|SLC4A3_uc010fwn.1_Missense_Mutation_p.A385V	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	876	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGGCAGTGCCCTGCCCCCC	0.642000														21			9		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991801	21991801	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:21991801G>A	uc001wbe.3	-	1	2343	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	SALL2_uc010tly.2_Silent_p.A685A|SALL2_uc010tlz.1_Silent_p.A550A|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.A552A|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	687							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)		TCTGTGCCCGGGCAGCTGGAC	0.592000														55			22		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45802612	45802612	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:45802612C>T	uc010gpt.1	+	8	1327	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	TRPM2_uc002zet.1_Silent_p.I409I|TRPM2_uc002zeu.1_Silent_p.I409I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I409I|TRPM2_uc002zex.1_Silent_p.I195I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	409						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						TCCAAGATATCGTCCGGAGGC	0.562000														18			11		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827034	1827034	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:1827034G>A	uc002lua.4	-	1	1849	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	REXO1_uc010dsr.1_Missense_Mutation_p.S539F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	585	Ser-rich.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaggaggaggagga	0.711000														1			3		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734363	42734363	+	Silent	SNP	G	A	A	rs17852071		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:42734363G>A	uc003clw.3	-	12	1542	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	HHATL_uc003clx.3_Silent_p.F465F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	465					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGGTCTGGGGGAACCCTGTGT	0.602000														44			15		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433426	40433426	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:40433426C>T	uc002omp.4	-	1	851	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	281	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTGATACCCCCATGGTTGT	0.592000														39			3		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151453208	151453208	+	Splice_Site	SNP	C	T	T	rs144364391		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:151453208C>T	uc010ntk.1	-	4	503	c.263_splice	c.e4-1	p.D88_splice		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	88					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCACTGCATCTGCGTGAAAG	0.438000														14			29		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107815042	107815042	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:107815042G>A	uc022ccg.1	+	8	641	c.439_splice	c.e8-1	p.G147_splice	COL4A5_uc004enz.1_Splice_Site_p.G147_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	147	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAATAATAGGGACCCCCTGGG	0.348000									Alport syndrome with Diffuse Leiomyomatosis					8			11		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851957	160851957	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:160851957G>A	uc001fxc.3	-	3	311	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	65	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGTCTGGTAGATAACACCAT	0.577000														54			13		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119467391	119467391	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:119467391G>A	uc001ehl.1	-	3	568	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGGGCACAGGGGAATCAGCA	0.463000														163			30		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693413	187693413	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:187693413C>T	uc002upu.1	-	8	1240	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	400					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)			CTTGTCCATTCACTGCTGAAT	0.363000														42			13		0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139342	93139342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:93139342G>A	uc001tcj.2	+	4	520	c.290G>A	c.(289-291)aGa>aAa	p.R97K		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	97	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTGAGGCAGAGAGATGACTTT	0.388000														98			31		0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448443	126448443	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:126448443C>T	uc003yrx.3	+	2	1431	c.849C>T	c.(847-849)ccC>ccT	p.P283P	TRIB1_uc011lis.2_Silent_p.P117P|TRIB1_uc010mdn.3_Silent_p.P52P|TRIB1_uc022bay.1_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	283	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GACGATACCCCTTCCATGACT	0.567000														46			63		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109870131	109870131	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:109870131G>A	uc001dxm.2	-	11	1513	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	SORT1_uc010ovi.2_Silent_p.V351V	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	488					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATGAGCAATGACAATGCCTA	0.502000														41			10		0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112285	112112285	+	Silent	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:112112285T>C	uc003vgh.3	+	10	1523	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	IFRD1_uc011kmn.2_Silent_p.F301F|IFRD1_uc003vgj.3_Silent_p.F351F|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.F301F|IFRD1_uc003vgk.3_Silent_p.F68F	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	351					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACGGGATTTTCCAACAGAAA	0.383000														170			55		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390152	48390152	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:48390152G>A	uc001jez.3	-	0	840	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	242	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)	GGATGTGCGCGATGTCCTCGG	0.647000														21			19		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79205475	79205475	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:79205475G>A	uc002jzu.2	-	8	776	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_Silent_p.L156L|C17orf56_uc002jzt.2_Silent_p.L156L|C17orf56_uc002jzv.2_Silent_p.L88L|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	240						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGTCACTCAGGGCCACCACC	0.642000														14			6		0	0	1	0	0
SUB1	10923	broad.mit.edu	37	5	32601183	32601183	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:32601183A>G	uc003jhs.2	+	4	505	c.377A>G	c.(376-378)aAa>aGa	p.K126R	SUB1_uc003jht.2_Non-coding_Transcript	NM_006713	NP_006704	P53999	TCP4_HUMAN	Homo sapiens SUB1 homolog (S. cerevisiae) (SUB1), mRNA.	126					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCAGTAAGAAAACTGTAAAAT	0.313000														34			12		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420526	216420526	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:216420526C>T	uc001hku.1	-	12	2597	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	USH2A_uc001hkv.3_Missense_Mutation_p.R737Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	737	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R737*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTAAAGCTTCGGAGAAATTT	0.383000										HNSCC(13;0.011)				68			58		0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012517	41012517	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:41012517C>T	uc001cft.2	+	4	773	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGTTTCATTTCATTAGACATG	0.338000														18			6		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331891	107331891	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:107331891C>T	uc011lvo.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCAGCTGGGTCCTGGGTCACT	0.493000														54			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223289	140223289	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140223289C>T	uc003lhs.2	+	0	2383	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	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_uc003lhr.1_Missense_Mutation_p.H795Y	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	836					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)			AAATGTTGATCATGGCCTCAA	0.408000														26			12		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263075	52263076	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:52263075_52263076GG>AA	uc003ddd.3	-	8	1175_1176	c.1024_1025CC>TT	c.(1024-1026)ccg>TTg	p.P342L	TLR9_uc003dda.2_5'Flank|TLR9_uc003ddb.3_Intron|TLR9_uc003ddc.1_Intron	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)	ATTTTCACCCGGGCCGCGGATG	0.673000														41			20		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058286	53058286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:53058286C>T	uc010epq.1	+	4	2294	c.2117C>T	c.(2116-2118)cCt>cTt	p.P706L	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.	706					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)		GGAATGAAACCTTACAAGTGT	0.413000														236			42		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19448065	19448065	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:19448065C>A	uc002nmk.4	+	3	486	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	149					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCCTGCTCTTCCAGCTCGCTG	0.602000														42			16		0.00074312	0.000747313	1	1	0
A1CF	29974	broad.mit.edu	37	10	52573681	52573681	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:52573681C>T	uc001jjj.3	-	9	1471	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	A1CF_uc010qho.2_Missense_Mutation_p.G436E|A1CF_uc010qhn.2_Missense_Mutation_p.G428E|A1CF_uc009xov.3_Missense_Mutation_p.G420E|A1CF_uc001jji.3_Missense_Mutation_p.G420E|A1CF_uc001jjh.3_Missense_Mutation_p.G428E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.P428S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAGCTCCATCCCAGGTAAAAT	0.463000														91			30		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759259	55759259	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:55759259T>A	uc010spk.2	+	0	365	c.365T>A	c.(364-366)aTg>aAg	p.M122K		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GACCGCTGCATGGCCATCTGC	0.448000														31			13		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483345	17483345	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:17483345C>T	uc001mnc.3	-	4	733	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ABCC8_uc010rcy.1_Missense_Mutation_p.E203K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	203					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTTCACCTCCCTCGGTGTC	0.577000														34			11		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	114705	114705	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:114705G>A	uc002cfl.4	-	2	383	c.240C>T	c.(238-240)acC>acT	p.T80T	RHBDF1_uc010uty.2_Silent_p.T103T|RHBDF1_uc010utz.2_Silent_p.T80T|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	80					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACCTGCGGATGGTCTGTGTGA	0.627000														134			49		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84744883	84744883	+	Missense_Mutation	SNP	G	A	A	rs117241349		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:84744883G>A	uc021pvc.1	+	9	1712	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	NRG3_uc010qlz.1_Missense_Mutation_p.R537Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R538Q|NRG3_uc001kcp.2_Missense_Mutation_p.R341Q|NRG3_uc001kcq.2_Missense_Mutation_p.R188Q|NRG3_uc021pvd.1_Missense_Mutation_p.R317Q|NRG3_uc021pve.1_Missense_Mutation_p.R342Q|NRG3_uc021pvf.1_Missense_Mutation_p.R188Q|NRG3_uc021pvg.1_Missense_Mutation_p.R366Q|NRG3_uc021pvh.1_Missense_Mutation_p.R150Q|NRG3_uc021pvi.1_Missense_Mutation_p.R368Q|NRG3_uc021pvk.1_Missense_Mutation_p.R78Q|NRG3_uc001kcr.2_Missense_Mutation_p.R212Q|NRG3_uc021pvl.1_Missense_Mutation_p.R188Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	562					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.R538Q(1)|p.R341Q(1)|p.D562H(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)		AAAACCCAACGAAATACATCA	0.408000														173			48		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828166	160828166	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:160828166G>A	uc003qti.3	+	2	654	c.627G>A	c.(625-627)gtG>gtA	p.V209V	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	209						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTGTGTTTGTGATCTTCCGCT	0.468000														121			43		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955403	58955403	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:58955403C>T	uc010trr.2	+	25	3995	c.3751C>T	c.(3751-3753)Cca>Tca	p.P1251S	KIAA0586_uc001xdu.4_Missense_Mutation_p.P1183S|KIAA0586_uc010trs.2_Missense_Mutation_p.P1113S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1154S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P1122S|KIAA0586_uc010trt.2_Missense_Mutation_p.P1058S	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1122										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTCCACCTCCAGAGCCAGT	0.488000														43			24		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369880	56369880	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:56369880C>T	uc002qmd.4	+	2	1543	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	NLRP4_uc002qmf.3_Missense_Mutation_p.S299F|NLRP4_uc010etf.3_Missense_Mutation_p.S205F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	374	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGTACTCCTCTTTCGTCTTT	0.582000														27			15		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975229	106975229	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:106975229G>A	uc003prh.3	+	4	4150	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1080	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CATCCCCTTAGAAGAAGGAGA	0.423000														138			37		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183652273	183652273	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:183652273C>T	uc003ivd.1	+	14	3023	c.2948C>T	c.(2947-2949)cCc>cTc	p.P983L	ODZ3_uc003ive.1_Missense_Mutation_p.P389L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	983					signal transduction	integral to membrane		p.P983S(1)		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)		GAAGACAGTCCCATCATTCCC	0.398000														42			4		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56700250	56700250	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56700250C>T	uc010dcz.2	-	3	493	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TEX14_uc002iwr.2_Silent_p.P125P|TEX14_uc002iws.2_Silent_p.P125P|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	125						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAAGTCTTCGGGTTTTGAC	0.557000														60			17		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022272	76022272	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:76022272G>A	uc010kbe.3	-	5	3815	c.3285C>T	c.(3283-3285)gtC>gtT	p.V1095V	FILIP1_uc003phy.1_Silent_p.V1092V|FILIP1_uc003phz.3_Silent_p.V993V|FILIP1_uc003pia.3_Silent_p.V1092V|FILIP1_uc003pib.1_Silent_p.V844V	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1092										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						TTACTGGTCGGACAGTAATAA	0.502000														116			50		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450905	10450905	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:10450905G>A	uc010coi.3	-	3	363	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P79S|MYH2_uc010coj.3_Missense_Mutation_p.P79S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	79	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						GGGTTCATGGGGAAGACCTGA	0.418000														173			47		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357053	10357053	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:10357053C>T	uc002gmn.3	-	22	2952	c.2841G>A	c.(2839-2841)ctG>ctA	p.L947L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	947					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K946T(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						ATTCATCCTCCAGTTTCCTCT	0.443000														275			73		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100195401	100195401	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:100195401G>A	uc021pwv.1	-	3	492	c.246C>T	c.(244-246)gtC>gtT	p.V82V	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.V82V|HPS1_uc001kpl.3_Silent_p.V82V	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCAGGTGAAGGACATACAGGA	0.532000									Hermansky-Pudlak syndrome					72			30		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797560	105797560	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:105797560G>A	uc001pix.2	+	12	2387	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	GRIA4_uc001piw.2_Silent_p.T647T	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	647					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.T647M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTTCCTGACGGTTGAGCGAA	0.428000														64			28		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954832	32954832	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:32954832C>T	uc002ntg.3	+	13	1701	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	DPY19L3_uc002nth.2_Silent_p.S501S|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCCTATGTAGCCCTGAAATAT	0.438000														162			37		0	0	1	0	0
HSPB1	3315	broad.mit.edu	37	7	75933408	75933408	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:75933408T>A	uc003uew.3	+	2	691	c.536T>A	c.(535-537)aTc>aAc	p.I179N	HSPB1_uc010ldj.2_Non-coding_Transcript|AX747594_uc003uey.1_5'Flank	NM_001540	NP_001531	P04792	HSPB1_HUMAN	Homo sapiens heat shock 27kDa protein 1 (HSPB1), mRNA.	179	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						TCCAACGAGATCACCATCCCA	0.637000														22			7		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453073	64453073	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:64453073G>A	uc011kdr.2	-	1	926	c.332C>T	c.(331-333)cCc>cTc	p.P111L	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.P111L	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cttgccagagggaaatacctt	0.438000														31			10		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191055	34191055	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:34191055C>T	uc001bxm.1	-	16	2767	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R	CSMD2_uc001bxn.1_Missense_Mutation_p.G824R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	824						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTGGGTCCCGTGGTAAACC	0.542000														21			8		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79946935	79946935	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:79946935C>T	uc004akr.3	+	45	6261	c.6001C>T	c.(6001-6003)Cat>Tat	p.H2001Y	VPS13A_uc004akp.4_Missense_Mutation_p.H2001Y|VPS13A_uc004akq.4_Missense_Mutation_p.H2001Y|VPS13A_uc004aks.3_Missense_Mutation_p.H1962Y|VPS13A_uc004akt.3_Missense_Mutation_p.H341Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2001					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATAAGAAATCATTTTTCAGT	0.313000														114			39		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377523	138377523	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:138377523C>T	uc022bpi.1	+	0	1167	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	PPP1R26_uc004cfr.1_Silent_p.P389P	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	389						nucleolus	protein binding										GGGACCTGCCCCAGAGGGTCC	0.627000														25			8		0	0	1	0	0
BC071797	0	broad.mit.edu	37	21	9769050	9769050	+	RNA	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:9769050A>G	uc011abu.2	+	9		c.1025A>G								Homo sapiens, clone IMAGE:4720764, mRNA.																		GGAATTGATAACAAGAACAGC	0.333000														12			10		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676437	56676437	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:56676437C>T	uc010dcz.2	-	13	2405	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	TEX14_uc002iwr.2_Missense_Mutation_p.E757K|TEX14_uc002iws.2_Missense_Mutation_p.E757K|TEX14_uc010dda.2_Missense_Mutation_p.E537K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	763						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCTCGACTTCATCTAATATC	0.443000														82			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789353	140789353	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140789353C>T	uc003lkj.2	+	0	1584	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F528F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	530	Cadherin 5.				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)			TGCGCGCCTTCGCGCTCACGC	0.692000														3			3		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160729052	160729052	+	Missense_Mutation	SNP	C	T	T	rs115433124	by1000genomes	TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:160729052C>T	uc002ubb.4	-	12	2101	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	LY75-CD302_uc010fos.3_Missense_Mutation_p.R676Q|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R676Q|LY75-CD302_uc010fot.2_Missense_Mutation_p.R676Q	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	676	C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTGGCAGAATCGTTCAGCTTC	0.353000														91			37		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	T	T	rs147405090		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:98509802C>T	uc003upp.3	+	17	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_uc011kis.2_Missense_Mutation_p.S722F|TRRAP_uc003upr.3_Missense_Mutation_p.S414F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	722					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(15)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000														110			92		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492425	149492425	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:149492425A>G	uc010lpk.3	+	41	6305	c.6305A>G	c.(6304-6306)cAg>cGg	p.Q2102R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2105	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGCCCTCAGGGATGGCAC	0.662000														14			24		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973959	69973959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:69973959G>A	uc003heg.4	+	4	1275	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	410					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCCAGGGGAGCAGCTGTT	0.448000														186			43		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13401823	13401823	+	Silent	SNP	G	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:13401823G>T	uc003bxv.1	-	14	2184	c.2101C>A	c.(2101-2103)Cgg>Agg	p.R701R	NUP210_uc003bxx.3_Silent_p.R373R	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	701					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGATAATTCCGGGAGGAATGG	0.592000														22			11		4.36969e-10	4.42555e-10	1	1	0
SLC36A3	285641	broad.mit.edu	37	5	150660743	150660743	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:150660743A>G	uc003ltx.2	-	10	1517	c.1098_splice	c.e10-1	p.W366_splice	SLC36A3_uc003ltv.2_Splice_Site_p.W310_splice|SLC36A3_uc003ltw.2_Splice_Site_p.W325_splice	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	325						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTGGTACAACCTGCAGACA	0.512000														37			18		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47621705	47621705	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr20:47621705C>T	uc002xtx.4	+	25	3683	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	ARFGEF2_uc010zyf.2_Silent_p.F470F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1177					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGCCAACTTCCGTTTCCAGA	0.438000														141			36		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530692	5530692	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:5530692C>T	uc021qcw.1	-	0	97	c.97G>A	c.(97-99)Gag>Aag	p.E33K	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.E33K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	33	Ubiquitin-like.									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)		GAGAAATCCTCCTTGTCTTTG	0.537000														94			26		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998572	21998572	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:21998572C>T	uc001rfh.3	-	23	3081	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	ABCC9_uc001rfi.1_Missense_Mutation_p.E1021K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1021	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	p.S1020S(1)		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)	ATACTGTACTCCGATGTCCAT	0.383000														53			20		0	0	1	0	0
FGF4	2249	broad.mit.edu	37	11	69588129	69588129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:69588129C>T	uc001opg.1	-	2	888	c.569G>A	c.(568-570)gGg>gAg	p.G190E	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	Homo sapiens fibroblast growth factor 4 (FGF4), mRNA.	190					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CACTCGGTTCCCCTTCTTGGT	0.587000														57			14		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220505	41220505	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:41220505C>T	uc002oor.2	-	1	335	c.33G>A	c.(31-33)ggG>ggA	p.G11G	ADCK4_uc002ooq.2_Silent_p.G11G|ADCK4_uc002oos.2_Silent_p.G11G|ITPKC_uc002oot.3_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	11						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCCACCGGTCCCCCGAAGTA	0.657000														25			8		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987358	2987358	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:2987358C>T	uc002csd.3	+	6	2113	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	FLYWCH1_uc002csb.3_Missense_Mutation_p.P583S|FLYWCH1_uc002csc.3_Missense_Mutation_p.P583S|FLYWCH1_uc010bsv.3_Missense_Mutation_p.P308S|FLYWCH1_uc002cse.3_Missense_Mutation_p.P39S	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	584						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGAGCACTTCCCCAACCTGGC	0.726000														9			5		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470744	4470744	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:4470744G>A	uc001lyz.2	+	0	220	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H58R(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCTCCATGAACCCATGTA	0.527000														141			49		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109496834	109496834	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:109496834C>T	uc010agk.2	+	9	1863	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	MYO16_uc001vqt.1_Missense_Mutation_p.P392L|MYO16_uc001vqu.1_Missense_Mutation_p.P192L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	392	Myosin head-like 1.				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)			TCCACCAAACCCGAGCAGGTA	0.393000														57			20		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380004	231380004	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:231380004C>T	uc002vqt.3	+	24	2430	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	763	Poly-Lys.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAGAAGTTCAAGGATCCCA	0.438000														28			19		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302320	209302320	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:209302320G>A	uc010zjb.2	+	2	556	c.270G>A	c.(268-270)ggG>ggA	p.G90G	PTH2R_uc002vdb.3_Silent_p.G79G	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	79						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAACAGTGGGGAAAATATCGG	0.313000														47			15		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2275814	2275814	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:2275814G>A	uc003gex.2	-	8	2501	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZFYVE28_uc011bvk.2_Silent_p.I657I|ZFYVE28_uc011bvl.2_Silent_p.I697I|ZFYVE28_uc003gew.2_Silent_p.I613I	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	727					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACAGGCGGTGGATGAGGTCGT	0.642000														50			16		0	0	1	0	0
PIN1	5300	broad.mit.edu	37	19	9949114	9949114	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:9949114C>T	uc002mml.2	+	1	199	c.61C>T	c.(61-63)Cga>Tga	p.R21*	PIN1_uc002mmk.2_Nonsense_Mutation_p.R21*|PIN1_uc021uor.1_Non-coding_Transcript|PIN1_uc002mmn.2_Non-coding_Transcript	NM_006221	NP_006212	Q13526	PIN1_HUMAN	Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (PIN1), transcript variant 1, mRNA.	21	WW.				cell cycle|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell motility|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						CCCTCCAGGCCGAGTGTACTA	0.652000														10			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38899763	38899763	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:38899763G>A	uc021yzh.1	+	75	11560	c.11451G>A	c.(11449-11451)gaG>gaA	p.E3817E	DNAH8_uc003ooe.2_Silent_p.E3600E|DNAH8_uc003oog.1_Silent_p.E49E|LOC100131047_uc003oof.2_Intron	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						TTCTAACAGAGAAACAGGTAA	0.318000														57			10		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647190	37647190	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:37647190G>A	uc002ofo.1	-	2	371	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTCTCTGAGAAGGGTCCAG	0.522000														50			14		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72435858	72435858	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:72435858C>T	uc004ahl.3	+	0	128	c.63C>T	c.(61-63)atC>atT	p.I21I	C9orf135_uc011lrw.2_5'UTR|C9orf135_uc010moq.3_5'UTR|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Silent_p.I21I|BC039385_uc004ahk.3_5'Flank|BC039385_uc022bhy.1_5'Flank	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	21						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GGTTGGAGATCGGACCACCGG	0.577000														39			16		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356715	47356715	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:47356715G>A	uc021qis.1	-	26	2838	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L	MYBPC3_uc021qir.1_Missense_Mutation_p.S580L	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	927	Fibronectin type-III 2.				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)		CACCAGTATCGATGTGTGCTC	0.667000														36			12		0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68520994	68520995	+	Nonstop_Mutation	DNP	TC	AT	AT			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:68520994_68520995TC>AT	uc002sek.4	-	2	1145_1146	c.494_495GA>AT	c.(493-495)tga>tAT	p.*165Y	CNRIP1_uc002sej.4_Intron|CNRIP1_uc002sem.1_Non-coding_Transcript	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						AGAGCCACTTTCAGAGGAAGGA	0.480000														67			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:216373131C>T	uc001hku.1	-	16	4036	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_uc001hkv.3_Missense_Mutation_p.D1217N	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)				50			44		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	739604	739604	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:739604C>T	uc002ciz.1	-	0	797	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	75										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGCACGCTGCCACCCAGGGCT	0.662000														24			8		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527436	32527436	+	RNA	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr13:32527436G>A	uc001utu.2	+	3		c.1194G>A			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		CTTGCTGGAGGAGGAGATCAC	0.587000														48			13		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475556	140475556	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140475556C>T	uc003lil.3	+	0	1320	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	PCDHB2_uc003lim.1_Silent_p.F55F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	394	Cadherin 4.				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)			TTCCTTTTTTCTTGAAACCTT	0.493000														32			14		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491542	128491542	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:128491542A>C	uc003vnz.4	+	34	5911	c.5702A>C	c.(5701-5703)aAg>aCg	p.K1901T	FLNC_uc003voa.4_Missense_Mutation_p.K1868T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1901					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCCATCCAAGGCAGAGATC	0.612000														162			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201561	140201561	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140201561C>T	uc003lhl.2	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S	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_uc003lhk.1_Silent_p.S67S|PCDHAC2_uc003lhj.1_Silent_p.S67S	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	81	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q49fs*50(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)			GGGTGGCGTCCAAGGGCCGCG	0.642000														98			52		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288220	132288220	+	Missense_Mutation	SNP	G	A	A	rs148324548		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:132288220G>A	uc002tta.3	+	2	416	c.364G>A	c.(364-366)Gga>Aga	p.G122R	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.G122R|CCDC74A_uc021vpr.1_Missense_Mutation_p.G164R	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	122										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCATCAACGGAGTGTGGGT	0.657000														43			4		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225929	39225929	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:39225929G>A	uc003cjk.2	-	1	5237	c.5008C>T	c.(5008-5010)Cca>Tca	p.P1670S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P353S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1670S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1670							actin binding	p.P1670P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATAAATGTTGGGGAGGAGGGA	0.537000														76			22		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997575	19997575	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:19997575C>T	uc002ktv.1	-	0	304	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	67						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGAACAAGGCTAAATTTTTC	0.383000														74			26		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088274	56088274	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:56088274C>T	uc001shh.3	-	16	2542	c.2322G>A	c.(2320-2322)ggG>ggA	p.G774G	ITGA7_uc001shg.3_Silent_p.G770G|ITGA7_uc010sps.2_Silent_p.G677G|ITGA7_uc009znw.3_Silent_p.G17G|ITGA7_uc009znx.3_Silent_p.G651G	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	814					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAATGCTGATCCCGGAGGTGC	0.567000														33			12		0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65265627	65265627	+	RNA	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:65265627T>C	uc010roh.2	+	0		c.395T>C								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TAAACACTTCTGGGTGTGTCC	0.478000														39			26		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442900	116442900	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:116442900C>T	uc003pwm.3	-	2	475	c.379G>A	c.(379-381)Gga>Aga	p.G127R	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	127	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCAACATCTCCTTTTGGTCCA	0.602000														20			7		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166199580	166199580	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:166199580C>T	uc003ird.3	-	0	1596	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	412					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CATCCAAAATCTCTCGAGTTT	0.433000														82			21		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135942011	135942011	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:135942011C>T	uc010naa.1	+	4	658	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	211					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCACGCTCTTCGGGGAGTCTG	0.622000														77			38		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803477	27803477	+	Silent	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:27803477A>G	uc002rkz.4	+	0	4089	c.4038A>G	c.(4036-4038)caA>caG	p.Q1346Q	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1346										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AACCTTCCCAACCCAAGTTCA	0.468000														41			13		0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80022717	80022717	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:80022717G>A	uc002kdq.3	-	0	638	c.219C>T	c.(217-219)gaC>gaT	p.D73D	DUS1L_uc002kdp.3_5'Flank|DUS1L_uc002kdr.3_Silent_p.D73D|DUS1L_uc010wvi.1_Silent_p.D73D	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	73					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGAGGGGCCGGTCCTCGGGGC	0.662000														34			20		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108078	46108078	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:46108078C>T	uc003oxy.3	+	1	1017	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	253						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACCTGGATTCCTGCATCGAT	0.388000														103			28		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711062	58711062	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:58711062G>A	uc001nnh.2	+	1	121	c.71G>A	c.(70-72)gGa>gAa	p.G24E	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	gtatccccaggagcgcgaagt	0.438000														21			7		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170284	63170284	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:63170284G>A	uc001jlo.2	-	5	1272	c.903C>T	c.(901-903)ctC>ctT	p.L301L	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	301						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCAAGCGGTAGAGTTGCAACA	0.517000														77			26		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658879	49658879	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:49658879G>A	uc001jgu.3	-	8	1638	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	ARHGAP22_uc001jgs.3_Silent_p.S341S|ARHGAP22_uc001jgt.3_Silent_p.S431S|ARHGAP22_uc010qgl.2_Silent_p.S388S|ARHGAP22_uc010qgm.2_Silent_p.S437S|ARHGAP22_uc001jgv.3_Silent_p.S129S|ARHGAP22_uc001jgr.3_Silent_p.S148S	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	431	Ser-rich.				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						GCTGCCGGAAGGAGGACTTCC	0.697000														11			4		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493417	20493417	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:20493417T>C	uc003gpr.1	+	8	1013	c.809T>C	c.(808-810)gTt>gCt	p.V270A	SLIT2_uc003gps.1_Missense_Mutation_p.V270A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	270	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTGTAGTGTTTTGCACTGC	0.413000														103			19		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77711004	77711004	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:77711004C>T	uc002jxa.3	+	3	1211	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	397					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTGGGCATCGTGCCCGAGG	0.652000														21			6		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7483251	7483251	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:7483251C>T	uc003src.1	-	19	1732	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	COL28A1_uc011jxe.1_Missense_Mutation_p.E222K|COL28A1_uc003srd.3_Missense_Mutation_p.E94K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	539	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTGGTCCTTCTGGGCCTCTT	0.537000														56			53		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595192	140595192	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:140595192C>T	uc003lja.1	+	0	1684	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACCTGCCCCTCACATCCC	0.672000														101			52		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703601	66703601	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:66703601A>T	uc001sti.2	+	3	921	c.893A>T	c.(892-894)tAt>tTt	p.Y298F	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	298					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTAATAATGTATTCCAGACTG	0.393000														110			33		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732673	88732673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:88732673G>A	uc003hqx.4	+	6	663	c.565G>A	c.(565-567)Ggc>Agc	p.G189S		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	189					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGCAGAAAACGGCAACGGCAG	0.512000														39			8		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998216	10998216	+	RNA	SNP	A	G	G			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:10998216A>G	uc002yis.1	-	10		c.2037T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGGTCTGTATGGTTTCCTT	0.353000														80			12		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110099751G>A	uc003ymz.4	+	0	99	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	4						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGGAAAACGAGACAGTCAG	0.458000														47			38		0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122955364	122955364	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:122955364G>A	uc001pyt.3	-	2	603	c.244C>T	c.(244-246)Cga>Tga	p.R82*		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	82	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGGCCACTCGGCCCTTCTGT	0.512000														38			15		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24467156	24467156	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:24467156A>C	uc003ned.1	-	8	776	c.665T>G	c.(664-666)aTg>aGg	p.M222R	GPLD1_uc010jpr.1_Missense_Mutation_p.M59R|GPLD1_uc010jps.1_Missense_Mutation_p.M222R	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	222						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AACAGCTAGCATCTCACCATA	0.338000														60			10		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323559	124323559	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:124323559C>T	uc003ifa.3	+	1	1000	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SPRY1_uc003ifb.3_Silent_p.L271L|SPRY1_uc021xro.1_Silent_p.L271L	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	271	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTTGCTTACTCTGTTATCCTC	0.458000														75			24		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692441	12692441	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:12692441G>A	uc002mtz.2	-	4	577	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AATCCAGTAGGAGTTTCCAGG	0.433000														96			57		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117779	117779	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrGL000205.1:117779C>T	uc002kgk.4	+	0		c.1157C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGAGCCAAGGCCTTTGCAGGA	0.567000														77			10		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059391	152059391	+	Missense_Mutation	SNP	C	T	T	rs140526562		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:152059391C>T	uc001ezo.1	-	2	832	c.767G>A	c.(766-768)gGa>gAa	p.G256E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	256							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCAAGTTTCCTTCCTGTTC	0.428000														91			68		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233545	168233545	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:168233545G>A	uc010jjg.3	-	8	1261	c.841C>T	c.(841-843)Cct>Tct	p.P281S	SLIT3_uc003mab.3_Missense_Mutation_p.P281S|SLIT3_uc010jji.2_Missense_Mutation_p.P281S|SLIT3_uc003mac.1_Missense_Mutation_p.P78S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	281	LRRNT 2.				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)			CAGGGCGAAGGGCAGGAGATG	0.572000														42			23		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998311	10998311	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr21:10998311C>T	uc002yis.1	-	10		c.1942G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTGATTTTCCATCACAATC	0.363000														85			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541939	55541939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:55541939G>A	uc003xsd.1	+	3	5645	c.5497G>A	c.(5497-5499)Gac>Aac	p.D1833N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1833					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)			TTTTCATGAGGACTTGCTGGA	0.428000														68			19		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88408040	88408040	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:88408040C>T	uc002ssr.3	+	8	1381	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Silent_p.P128P	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCTCCCACCCCATCACTAAGG	0.562000														26			6		0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222920367	222920367	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:222920367C>T	uc001hnt.3	+	3	451	c.185C>T	c.(184-186)tCc>tTc	p.S62F	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	62										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TCTAAACTTTCCTGGGGGCCC	0.353000														35			39		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815256	167815256	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:167815256G>A	uc001ger.3	-	19	2981	c.2683C>T	c.(2683-2685)Cgt>Tgt	p.R895C	ADCY10_uc010plj.2_Missense_Mutation_p.R742C|ADCY10_uc009wvk.3_Missense_Mutation_p.R803C|ADCY10_uc009wvl.3_Missense_Mutation_p.R894C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	895					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GACAAGGAACGATAGTGCACC	0.458000														63			12		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051763	4051763	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:4051763G>A	uc003smx.3	+	15	2455	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	SDK1_uc010kso.3_Silent_p.P48P	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	772	Fibronectin type-III 2.				cell adhesion	integral to membrane		p.P772L(1)|p.P771R(1)|p.P772Q(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCTCCCCCGAAAAATATAG	0.522000														146			154		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929626	105929626	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:105929626G>A	uc001pja.3	-	2	839	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	KBTBD3_uc001pjb.3_Missense_Mutation_p.R67C|KBTBD3_uc009yxm.3_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	63	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AACACACAACGATGACACGGG	0.308000														52			8		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20953018	20953018	+	Silent	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:20953018T>C	uc003zog.1	+	36	4449	c.4086T>C	c.(4084-4086)agT>agC	p.S1362S	FOCAD_uc003zoh.1_Silent_p.S798S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1362						integral to membrane	binding										CTGAAAGCAGTTTTATTGGAG	0.368000														38			21		0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47516644	47516644	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:47516644G>A	uc004dim.3	-	3	547	c.330C>T	c.(328-330)ttC>ttT	p.F110F	UXT_uc022bvp.1_Non-coding_Transcript|UXT_uc004din.3_Silent_p.F98F|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_153477	NP_705582	Q9UBK9	UXT_HUMAN	Homo sapiens ubiquitously-expressed, prefoldin-like chaperone (UXT), transcript variant 1, mRNA.	98					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TCAACTCCAGGAAAAAACCAT	0.458000														5			5		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116403266	116403266	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:116403266C>T	uc003vij.3	+	10	2714	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	MET_uc022akk.1_Missense_Mutation_p.P843S|MET_uc010lkh.3_Missense_Mutation_p.P861S|MET_uc011knh.1_3'UTR|MET_uc011kni.2_Missense_Mutation_p.P843S|MET_uc011knj.2_Missense_Mutation_p.P413S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	843					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)			TGTGTTTAAGCCTTTTGAAAA	0.358000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					44			54		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609529	81609529	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:81609529A>T	uc001xvd.1	+	9	1283	c.1127A>T	c.(1126-1128)gAg>gTg	p.E376V		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	376					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCCCAGGAAGAGACTCTACAA	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							59			25		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352420	20352420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:20352420G>A	uc002dhb.3	-	7	1798	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	UMOD_uc002dgz.3_Nonsense_Mutation_p.Q524*|UMOD_uc002dha.3_Nonsense_Mutation_p.Q524*	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	524	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.A556G(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TACCTGTCCTGGATGATGAAG	0.493000														25			6		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172187129	172187129	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:172187129G>A	uc010zdo.2	-	6	941	c.800C>T	c.(799-801)cCa>cTa	p.P267L	METTL8_uc002ugu.4_Missense_Mutation_p.P267L|METTL8_uc002ugt.4_Missense_Mutation_p.P267L|METTL8_uc002ugs.4_Missense_Mutation_p.P217L|METTL8_uc010zdp.2_Missense_Mutation_p.P222L	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	267							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GATCCCATCTGGAAAAGGGTA	0.438000														43			19		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74000171	74000171	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:74000171C>T	uc010rrj.2	-	4	765	c.722G>A	c.(721-723)gGa>gAa	p.G241E	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G241E			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	241						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					cgaaacatttcctgcctgtta	0.353000														17			4		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169892	207169892	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:207169892G>A	uc002vbp.2	+	4	890	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	214							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTCATTTGGATTCAGTTAG	0.423000														35			13		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6215778	6215778	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:6215778C>T	uc001amb.2	-	4	499	c.388_splice	c.e4-1	p.E130_splice		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	130					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGGGCTCCTACAGAGACC	0.612000														20			7		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59949585	59949585	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:59949585C>T	uc002lil.3	+	24	3376	c.3161C>T	c.(3160-3162)cCt>cTt	p.P1054L	KIAA1468_uc010xel.2_Missense_Mutation_p.P1054L|KIAA1468_uc002lim.3_Missense_Mutation_p.P732L	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1054							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGGAAGATCCTCAGTATCAA	0.388000														87			37		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:75065508C>T	uc001dgg.3	-	10	1816	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.D327N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	533	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						TCTTTTTTATCATCCAAAGGT	0.398000														136			21		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259745	16259745	+	Missense_Mutation	SNP	G	A	A	rs150583228		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:16259745G>A	uc002den.4	-	22	3078	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1014	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGATGCCCGGGCCCCACCTAG	0.627000														28			9		0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11162451	11162452	+	Missense_Mutation	DNP	TC	GT	GT	rs144999294		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:11162451_11162452TC>GT	uc003wtm.3	+	3	917_918	c.519_520TC>GT	c.(517-522)cttcgg>ctGTgg	p.R174W	MTMR9_uc010lrx.3_Missense_Mutation_p.R67W|MTMR9_uc011kxa.2_Missense_Mutation_p.R89W	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	174	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.R174W(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATGAAGCTCTTCGGAAGGTAGC	0.455000														132			34		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40476069	40476069	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40476069G>A	uc001zkx.4	+	5	948	c.736G>A	c.(736-738)Gga>Aga	p.G246R	BUB1B_uc010ucl.1_Missense_Mutation_p.G109R	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATCCGTGTAGGAGGTGCTCT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					38			14		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457224	110457224	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:110457224C>T	uc003yne.3	+	37	5230	c.5126C>T	c.(5125-5127)gCc>gTc	p.A1709V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1709	IPT/TIG 9.				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)			AATTATACGGCCATTGAATGT	0.458000										HNSCC(38;0.096)				287			32		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73150434	73150434	+	RNA	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr8:73150434C>T	uc022avu.1	-	5		c.738G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		CCGTGCTCTTCACCTTTAGAA	0.383000														6			9		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328075	61328075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:61328075G>A	uc002lji.3	-	2	325	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	SERPINB3_uc002ljg.3_Nonsense_Mutation_p.Q61*|SERPINB3_uc010dqa.3_Nonsense_Mutation_p.Q61*|SERPINB3_uc010dqb.3_Nonsense_Mutation_p.Q61*|SERPINB3_uc010dqc.2_Nonsense_Mutation_p.Q61*	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	61					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTGTGACTTGATCAAAGTGA	0.438000														45			19		0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:139094904C>T	uc003qie.3	+	0	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000														145			56		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72511404	72511404	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:72511404A>T	uc002aty.2	-	1	319	c.35T>A	c.(34-36)tTc>tAc	p.F12Y	PKM2_uc010bit.1_Missense_Mutation_p.F17Y|PKM2_uc010uki.2_Missense_Mutation_p.F86Y|PKM2_uc002atx.2_Missense_Mutation_p.F12Y|PKM2_uc002atw.2_Missense_Mutation_p.F12Y|PKM2_uc010ukj.2_Missense_Mutation_p.S28T|PKM2_uc010ukk.2_Missense_Mutation_p.F12Y|PKM2_uc002atv.2_Missense_Mutation_p.F47Y|PKM2_uc010biu.1_Missense_Mutation_p.F33Y	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	12					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	GGTCTGAATGAAGGCAGTCCC	0.537000														70			22		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518133	233518133	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:233518133G>A	uc001hvt.4	+	9	3048	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	KIAA1804_uc001hvu.4_Silent_p.R375R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	929					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATCTGCCAAGGGAGGTCTCAC	0.582000														75			31		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128346007	128346007	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:128346007C>T	uc002top.3	+	14	1784	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	577	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.I577I(3)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACAGATATCCTCACCCTGG	0.557000														34			7		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125865465	125865465	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:125865465C>T	uc011lzh.2	+	25	3317	c.3183C>T	c.(3181-3183)acC>acT	p.T1061T	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.T400T	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	1061					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGACAGCAACCGGGGTTCAAG	0.522000											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			18		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022497	18022497	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:18022497G>A	uc021trm.1	+	0	602	c.383G>A	c.(382-384)aGc>aAc	p.S128N	MYO15A_uc021trl.1_Missense_Mutation_p.S128N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	128	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGTCACTCAGCAAAGCGTCC	0.647000														13			3		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178684	24178684	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:24178684G>A	uc003ndx.3	-	8	1502	c.1200C>T	c.(1198-1200)cgC>cgT	p.R400R	DCDC2_uc003ndy.3_Silent_p.R400R|DCDC2_uc003ndw.3_Silent_p.R151R	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	400					cellular defense response|intracellular signal transduction|neuron migration			p.R400H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CACGAGCAGGGCGTGCCTGCT	0.522000														77			47		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582906	55582906	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:55582906G>A	uc010qhy.1	-	34	4996	c.4601C>T	c.(4600-4602)cCc>cTc	p.P1534L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1529L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1504L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1524L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1487L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1458L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1529L|PCDH15_uc010qia.1_Missense_Mutation_p.P1507L|PCDH15_uc001jju.1_Missense_Mutation_p.P1527L|PCDH15_uc010qib.1_Missense_Mutation_p.P1504L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1527					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATAAAGGGGATTATGGGC	0.368000										HNSCC(58;0.16)				95			19		0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37273673	37273673	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr22:37273673G>A	uc003apy.4	+	9	1012	c.828G>A	c.(826-828)cgG>cgA	p.R276R	NCF4_uc003apz.4_3'UTR	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	276					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CATGCAGGCGGGAGTTCCAGA	0.562000														57			13		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328233	3328233	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:3328233C>T	uc001akf.3	+	8	1554	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	PRDM16_uc001ake.3_Missense_Mutation_p.S491F|PRDM16_uc009vlh.3_Missense_Mutation_p.S192F|PRDM16_uc001akc.3_Missense_Mutation_p.S491F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	491	Pro-rich.			S -> Y (in Ref. 2; AAG33382).	brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TACTTTCCCTCCAGGCCGCAC	0.682000			T	EVI1	"""MDS, AML"""									93			32		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827617	130827617	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:130827617G>A	uc001uik.3	+	2	432	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PIWIL1_uc001uij.2_Missense_Mutation_p.G54E	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	54					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGGCAGAGAGGAACAGCAGGA	0.443000														30			15		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151231397	151231397	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:151231397G>A	uc010ipj.3	-	52	8110	c.7866C>T	c.(7864-7866)gtC>gtT	p.V2622V	LRBA_uc010ipi.3_Silent_p.V144V|LRBA_uc003ils.4_Silent_p.V517V|LRBA_uc003ilt.4_Silent_p.V1270V|LRBA_uc003ilu.4_Silent_p.V2611V|LRBA_uc003ilr.4_Silent_p.V42V	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2622						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTAGAATAGACTCTGAAAC	0.368000														42			13		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30969550	30969550	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:30969550C>A	uc010xbr.1	-	3	304	c.162G>T	c.(160-162)aaG>aaT	p.K54N	C18orf34_uc002kxn.2_Missense_Mutation_p.K54N|C18orf34_uc010dmf.1_Missense_Mutation_p.K54N|C18orf34_uc002kxo.2_Missense_Mutation_p.K54N|C18orf34_uc002kxp.3_Missense_Mutation_p.K54N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	54										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CACTGTTCTCCTTAGAGGCTC	0.264000														72			26		2.46105e-21	2.51394e-21	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40837320	40837320	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:40837320C>T	uc002iay.3	+	4	813	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	199					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.V198M(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGACGTGTTCGCCTTCAGCT	0.647000														47			13		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650807	93650807	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:93650807G>A	uc004aqz.3	+	12	1938	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	SYK_uc004ara.3_Missense_Mutation_p.G555E|SYK_uc004arb.3_Missense_Mutation_p.G555E|SYK_uc004arc.3_Missense_Mutation_p.G578E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	578	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGATGAAAGGAAGTGAAGTC	0.433000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									14			7		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74128495	74128495	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:74128495G>A	uc002sjw.3	+	1	179	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ACTG2_uc010fex.1_Silent_p.K19K|ACTG2_uc010yrn.2_Silent_p.K19K|ACTG2_uc010fey.3_Silent_p.K19K	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	19					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GCCTGTGCAAGGCAGGCTTCG	0.622000														42			13		0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40282417	40282417	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:40282417G>A	uc010cxx.3	-	2	560	c.203C>T	c.(202-204)tCc>tTc	p.S68F	RAB5C_uc002hyz.3_Missense_Mutation_p.S35F|RAB5C_uc002hza.3_Missense_Mutation_p.S35F	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	35					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GACGAGGCTGGATTTGCCTAC	0.597000														57			36		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:141536973C>T	uc003vws.2	-	3	878	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_uc011krl.2_Missense_Mutation_p.G168E|PRSS37_uc011krk.2_Missense_Mutation_p.G156E|PRSS37_uc003vwt.2_Missense_Mutation_p.G156E	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000														125			20		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352766	168352766	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:168352766C>T	uc021zik.1	+	28	4907	c.4588C>T	c.(4588-4590)Cag>Tag	p.Q1530*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.Q1555*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.Q1571*|MLLT4_uc021zij.1_Nonsense_Mutation_p.Q1554*|MLLT4_uc021zim.1_Nonsense_Mutation_p.Q1117*|MLLT4_uc003qwg.1_Nonsense_Mutation_p.Q880*	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.	1571					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			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)		GAAGAGACTCCaggagtcgaa	0.602000			T	MLL	AL									16			7		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513128	99513128	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:99513128C>T	uc003dti.1	+	2	514	c.386C>T	c.(385-387)cCa>cTa	p.P129L	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P128L|COL8A1_uc003dth.1_Missense_Mutation_p.P128L	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	128	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GAGCCTGGCCCAAGAGGACCA	0.552000														13			5		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:16260357C>T	uc001axk.1	+	10	7826	c.7622C>T	c.(7621-7623)cCc>cTc	p.P2541L	SPEN_uc010obp.1_Missense_Mutation_p.P2500L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2541	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582000														231			47		0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76187085	76187085	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:76187085T>C	uc002juz.3	+	1	152	c.98T>C	c.(97-99)gTt>gCt	p.V33A	AFMID_uc002juy.3_Non-coding_Transcript|AFMID_uc010dhj.3_Missense_Mutation_p.V33A|AFMID_uc002jva.3_Missense_Mutation_p.V33A|AFMID_uc002jvb.3_Missense_Mutation_p.V33A	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	33						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGCCGATGGGTTGTCCGACTG	0.557000														28			11		0	0	1	0	0
CD68	968	broad.mit.edu	37	17	7484807	7484807	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:7484807C>T	uc002ghv.3	+	5	1234	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CD68_uc002ghu.3_Missense_Mutation_p.P321L|MPDU1_uc010vub.2_5'Flank|MPDU1_uc002ghw.3_5'Flank|MPDU1_uc002ghx.3_5'Flank|MPDU1_uc010vuc.1_5'Flank	NM_001251	NP_001242	P34810	CD68_HUMAN	Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA.	348						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		p.R347C(1)		endometrium(1)|lung(1)|skin(1)	3						CGGAGACGCCCATCCGCCTAC	0.597000														83			37		0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27185480	27185480	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:27185480C>T	uc002hcy.1	+	5	697	c.687C>T	c.(685-687)atC>atT	p.I229I	ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_Silent_p.I36I|MIR451B_uc021ttw.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	229	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACTCCCAGATCCCTAGTGTCC	0.542000														98			32		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272197	158272197	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:158272197G>A	uc002tzj.1	-	7	1144	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	CYTIP_uc010zcl.1_Missense_Mutation_p.R252C	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	358					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGTCAAAAGCGACTTTCTTCC	0.473000														41			12		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48737456	48737456	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr12:48737456C>T	uc001rrn.2	-	6	879	c.617G>A	c.(616-618)aGa>aAa	p.R206K	ZNF641_uc001rro.2_Missense_Mutation_p.R192K|ZNF641_uc010sls.2_Missense_Mutation_p.R183K	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	206	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GGATAACATTCTGGGAGGTTC	0.532000														4			3		0	0	1	0	0
TATDN3	128387	broad.mit.edu	37	1	212969872	212969872	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:212969872C>T	uc001hjo.2	+	2	207	c.113C>T	c.(112-114)gCc>gTc	p.A38V	TATDN3_uc010ptj.1_Missense_Mutation_p.A38V|TATDN3_uc010ptk.1_Missense_Mutation_p.A38V|TATDN3_uc001hjp.2_Missense_Mutation_p.A38V|TATDN3_uc010ptl.1_Missense_Mutation_p.A38V|TATDN3_uc010ptm.1_5'UTR	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA.	38						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AATGTTGTGGCCCTTGTGGCA	0.284000														39			41		0	0	1	0	0
AK310665	0	broad.mit.edu	37	17	20334321	20334321	+	RNA	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr17:20334321G>A	uc010cqz.3	+	4		c.1034G>A								Homo sapiens cDNA, FLJ17707.																		GTGTGTTACAGTAAAGCTACC	0.433000														21			9		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80130180	80130180	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:80130180G>A	uc001xun.3	+	13	2876	c.2385G>A	c.(2383-2385)gaG>gaA	p.E795E	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.E163E|NRXN3_uc010asw.3_Silent_p.E163E|NRXN3_uc001xur.4_Silent_p.E163E	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	163					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCATCAAAGAGGAGAGAACCC	0.473000														19			10		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55989071	55989071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:55989071C>T	uc003pcs.3	-	14	1902	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E	COL21A1_uc010jzz.3_5'UTR|COL21A1_uc011dxg.2_5'UTR|COL21A1_uc011dxh.2_5'UTR	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	557	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCAGCATTCCCCTTTTCACC	0.353000														12			4		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38768159	38768159	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr7:38768159G>A	uc003tgy.3	-	26	2413	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	VPS41_uc003tgz.3_Missense_Mutation_p.S771F|VPS41_uc010kxn.3_Missense_Mutation_p.S707F|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	796					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.L795P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AAGAATAGGGGAAAGGCACGA	0.408000														178			23		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911032	100911032	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:100911032G>A	uc010nnt.2	-	4	2352	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	ARMCX2_uc004eid.2_Missense_Mutation_p.R515C|ARMCX2_uc004eie.3_Missense_Mutation_p.R515C|ARMCX2_uc004eif.3_Missense_Mutation_p.R515C|ARMCX2_uc004eig.3_Missense_Mutation_p.R515C|ARMCX2_uc022caq.1_Missense_Mutation_p.R515C	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	515						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GATAGCAAACGGAAAAAGTTT	0.363000														57			40		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83926249	83926249	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:83926249T>A	uc003pjy.3	-	12	1781	c.1516A>T	c.(1516-1518)Att>Ttt	p.I506F	ME1_uc011dzb.2_Missense_Mutation_p.I431F|ME1_uc011dzc.2_Missense_Mutation_p.I340F	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	506					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACATCTCTAATGGTATTCAAA	0.318000														106			24		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:56143797G>A	uc001nit.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233V(1)									TCAGCTGAGGGAAGACAGAAG	0.463000														72			20		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105800169	105800169	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:105800169C>T	uc001kxr.3	-	40	2871	c.2702_splice	c.e40-1	p.E901_splice		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	901	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGGTTTCTGCAGAGGAA	0.522000														51			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721277	13721277	+	Silent	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:13721277C>T	uc003jfd.2	-	70	12153	c.12111G>A	c.(12109-12111)gaG>gaA	p.E4037E	DNAH5_uc003jfc.2_Silent_p.E205E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4037	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W4036L(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)					GATCAGATTCCTCCCACGTCT	0.478000									Kartagener syndrome					69			26		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315604	12315604	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:12315604G>A	uc001mkg.1	+	2	917	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	209					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCTGGGGAGCGAATTTCCCAG	0.557000														74			29		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239037370	239037370	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:239037370G>A	uc002vxq.4	+	7	1348	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	ESPNL_uc010fyw.3_Missense_Mutation_p.G109E	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	413										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCGCTGGCGGGGGACACCTCA	0.697000														2			5		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129546986	129546986	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:129546986G>A	uc021xdy.1	-	2	670	c.236C>T	c.(235-237)cCt>cTt	p.P79L	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	79						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATCCATTTCAGGTTCTGGATC	0.532000														46			21		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000														402			60		0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11782026	11782026	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:11782026C>T	uc004cuw.3	+	7	982	c.877C>T	c.(877-879)Cca>Tca	p.P293S	MSL3_uc004cuv.1_Missense_Mutation_p.P293S|MSL3_uc011mig.2_Missense_Mutation_p.P144S|MSL3_uc011mih.2_Missense_Mutation_p.P281S|MSL3_uc004cuy.3_Missense_Mutation_p.P127S|MSL3_uc011mii.2_Missense_Mutation_p.P127S	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	293					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ATTTTTTCTTCCAATTAAGGA	0.373000														13			17		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495088	161495088	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:161495088A>T	uc001gaq.3	+	0	1053	c.640A>T	c.(640-642)Att>Ttt	p.I214F	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	214					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTTCTCTCCATTGACGCTGG	0.587000														51			14		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695755	196695755	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:196695755G>A	uc001gtj.4	+	12	2269	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	677	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGATGGAGAGTGGACAAC	0.294000														81			13		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731877	96731877	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:96731877C>T	uc001kka.4	+	5	861	c.836C>T	c.(835-837)cCa>cTa	p.P279L	CYP2C9_uc009xut.3_Missense_Mutation_p.P277L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	279					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CACAACCAACCATCTGAATTT	0.368000														70			29		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722314	14722314	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:14722314C>T	uc003zlj.3	-	0	402	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	119					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCTCCATTTTCATTCCATCTA	0.507000														49			13		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191958	66191958	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr11:66191958C>T	uc001ohx.1	+	6	1773	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	NPAS4_uc010rpc.1_Missense_Mutation_p.P323S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	533					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCTGACTCCTCCCAGCAC	0.612000														192			46		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50589813	50589813	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:50589813A>T	uc002lfe.2	+	5	1740	c.1124A>T	c.(1123-1125)gAt>gTt	p.D375V	DCC_uc010xdr.1_Missense_Mutation_p.D223V|DCC_uc010dpf.2_Missense_Mutation_p.D30V	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	375	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTCCTAGTGATTATTTTCAG	0.313000														79			26		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162343956	162343956	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:162343956C>T	uc001gbx.2	-	2	732	c.668G>A	c.(667-669)tGg>tAg	p.W223*		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	223										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CTCCTTGCTCCAGAGGGCTTT	0.592000														90			31		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116066815	116066815	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr2:116066815G>A	uc002tle.3	+	2	94	c.73_splice	c.e2-1	p.E25_splice	DPP10_uc002tla.2_Splice_Site_p.E21_splice|DPP10_uc021vnb.1_Splice_Site|DPP10_uc002tlb.2_Splice_Site|DPP10_uc002tlc.2_Splice_Site_p.E17_splice|DPP10_uc002tlf.2_Splice_Site_p.E14_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	21	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATCTCGGTAGGAACTGGGAAG	0.388000														41			11		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632406	237632406	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:237632406G>A	uc001hyl.1	+	16	1747	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	543					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTAATTAGAGGAAATCGTAA	0.373000														61			10		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137987	31137987	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:31137987G>A	uc010qdz.2	-	6	1782	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	ZNF438_uc001ivn.3_Silent_p.S400S|ZNF438_uc010qdy.2_Silent_p.S439S|ZNF438_uc001ivo.4_Silent_p.S13S|ZNF438_uc009xlg.3_Silent_p.S449S|ZNF438_uc001ivp.4_Silent_p.S439S|ZNF438_uc010qea.2_Silent_p.S449S|ZNF438_uc010qeb.2_Silent_p.S449S|ZNF438_uc010qec.1_Silent_p.S13S	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAGAAGCCAGGGAGGCCAAAG	0.453000														34			16		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505661	128505661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:128505661C>T	uc003qbk.3	-	6	1445	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	PTPRK_uc010kfc.3_Missense_Mutation_p.E360K|PTPRK_uc003qbj.3_Missense_Mutation_p.E360K|PTPRK_uc011ebu.2_Missense_Mutation_p.E360K|PTPRK_uc003qbl.1_Missense_Mutation_p.E230K|PTPRK_uc011ebv.1_Missense_Mutation_p.E360K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	360	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTCGGATCTCATATTCGGTA	0.458000														127			41		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594798	40594799	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:40594798_40594799GG>AA	uc001zld.3	-	3	544_545	c.243_244CC>TT	c.(241-246)ctccgg>ctTTgg	p.R82W	PLCB2_uc010bbo.3_Missense_Mutation_p.R82W|PLCB2_uc010ucm.2_Missense_Mutation_p.R82W|PLCB2_uc001zle.4_Missense_Mutation_p.R82W	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	82					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AAGACGTCCCGGAGCTTCTGGC	0.589000														37			11		0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158317861	158317861	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:158317861T>A	uc003fcc.3	+	6	923	c.560T>A	c.(559-561)aTt>aAt	p.I187N	MLF1_uc003fbx.3_Missense_Mutation_p.I146N|MLF1_uc003fbz.3_Missense_Mutation_p.I131N|MLF1_uc003fca.3_Missense_Mutation_p.I131N|MLF1_uc003fcb.3_Missense_Mutation_p.I156N|MLF1_uc010hvx.3_Missense_Mutation_p.I88N|MLF1_uc003fby.3_Missense_Mutation_p.I82N	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	156					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAAATGGCTATTGGTCATCAT	0.318000			T	NPM1	AML									68			31		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450990	138450990	+	Silent	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr4:138450990G>A	uc003ihe.4	-	0	2640	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	PCDH18_uc003ihf.4_Silent_p.S744S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.S531S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	751					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P750S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATCTGCCGGGATGGCCTTT	0.488000														49			26		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16328366	16328366	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:16328366C>T	uc003nbt.3	-	7	1147	c.176G>A	c.(175-177)aGg>aAg	p.R59K	ATXN1_uc010jpi.3_Missense_Mutation_p.R59K|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	59					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGCCCATGCCTCCCGCCCCC	0.667000														172			90		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12757510	12757510	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:12757510G>A	uc002mub.2	-	23	3036	c.2960C>T	c.(2959-2961)cCg>cTg	p.P987L	MAN2B1_uc010dyv.1_Missense_Mutation_p.P986L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	987					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGTTGGCCGGGTCCAGCTG	0.602000														36			33		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090166	31090166	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:31090166C>T	uc002eap.3	+	1	2810	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	ZNF646_uc021tgu.1_Missense_Mutation_p.P841S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGCCACAGGCCCTGCCACCC	0.627000														152			40		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10205044	10205044	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:10205044C>T	uc021ogc.1	+	18	3251	c.2563C>T	c.(2563-2565)Cca>Tca	p.P855S	UBE4B_uc001aqs.4_Missense_Mutation_p.P804S|UBE4B_uc001aqr.4_Missense_Mutation_p.P675S|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.P259S	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	804					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.S855S(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAAGATTCCCCACTGGCAAC	0.388000														29			4		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218260	134218260	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:134218260C>T	uc001lll.4	+	1	285	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P86S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	86	Pro-rich.							p.P86A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCTCCCCCCCTCCTGCCCG	0.751000														32			11		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526249	21526249	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr18:21526249G>A	uc002kuq.3	+	70	9437	c.9351_splice	c.e70+1	p.K3117_splice	LAMA3_uc002kur.3_Splice_Site_p.K3061_splice|LAMA3_uc002kus.4_Splice_Site_p.K1508_splice|LAMA3_uc002kut.4_Splice_Site_p.K1452_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3117	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACCAAAGGTAAATAGTTA	0.438000														45			7		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49860462	49860462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr15:49860462G>A	uc001zxl.2	-	8	1021	c.727C>T	c.(727-729)Cga>Tga	p.R243*	C15orf33_uc001zxm.3_Intron	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	243										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GCATCCTTTCGACTTAGAGGT	0.289000														49			13		0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95236439	95236439	+	Silent	SNP	T	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr5:95236439T>C	uc003klr.4	-	6	1262	c.912A>G	c.(910-912)gaA>gaG	p.E304E		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	304					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATACAGGAGATTCTGAACGGC	0.393000														26			18		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1897924	1897929	+	In_Frame_Del	DEL	CAGCAA	-	-	rs60018876		TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:1897924_1897929delCAGCAA	uc001aim.1	-	11	1438_1443	c.1282_1287delTTGCTG	c.(1282-1287)ttgctgdel	p.LL428del	KIAA1751_uc009vkz.1_In_Frame_Del_p.LL428del	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	428								p.L428*(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAACGACTTCCAGCAACCGAGAGGGC	0.587													---	12	---	---	6	---					
LAMC1	3915	broad.mit.edu	37	1	183100434	183100434	+	Splice_Site	DEL	T	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr1:183100434delT	uc001gpy.4	+	20	3744	c.3487_splice	c.e20-1	p.S1163_splice		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1163	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGTGCAGTCAGTCACTCA	0.388													---	208	---	---	24	---					
C3orf32	51066	broad.mit.edu	37	3	8661633	8661644	+	In_Frame_Del	DEL	TAGACATAAGTC	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr3:8661633_8661644delTAGACATAAGTC	uc011atg.2	-	11	1078_1089	c.1038_1049delGACTTATGTCTA	c.(1036-1050)aagacttatgtctac>aac	p.346_350KTYVY>N	C3orf32_uc003bqz.3_In_Frame_Del_p.324_328KTYVY>N|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_In_Frame_Del_p.273_277KTYVY>N|C3orf32_uc003bqu.3_In_Frame_Del_p.324_328KTYVY>N|C3orf32_uc003bqv.3_In_Frame_Del_p.273_277KTYVY>N|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_In_Frame_Del_p.324_328KTYVY>N	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	324								p.Y326H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						ATAGATGTAGTAGACATAAGTCTTTCCTTGGT	0.486													---	99	---	---	11	---					
SENP6	26054	broad.mit.edu	37	6	76376441	76376443	+	In_Frame_Del	DEL	TGA	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr6:76376441_76376443delTGA	uc003pid.4	+	9	1627_1629	c.1008_1010delTGA	c.(1006-1011)agtgat>agt	p.D341del	SENP6_uc003pie.4_In_Frame_Del_p.D334del|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_In_Frame_Del_p.D334del|SENP6_uc003pif.1_In_Frame_Del_p.D232del	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	341					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.D337N(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTTGTCCAGTGATGATGATGAT	0.305													---	69	---	---	7	---					
FAM75C2	645961	broad.mit.edu	37	9	90744800	90744801	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr9:90744800_90744801insC	uc011lti.2	-	3	3180_3181	c.3151_3152insG	c.(3151-3153)gaafs	p.E1051fs	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1051																	CCTCTCAGCTTCAGCACTGCTG	0.480													---	87	---	---	23	---					
ANXA7	310	broad.mit.edu	37	10	75143420	75143420	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr10:75143420delA	uc001jtz.2	-	8	801	c.728delT	c.(727-729)ttafs	p.L243fs	ANXA7_uc001jua.2_Frame_Shift_Del_p.L221fs|ANXA7_uc010qki.1_Frame_Shift_Del_p.L131fs|ANXA7_uc009xre.3_Frame_Shift_Del_p.L150fs|ANXA7_uc009xrf.1_Frame_Shift_Del_p.L163fs	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	243							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATTTCCACTTAACTCTGATTT	0.358													---	31	---	---	17	---					
OTX2	5015	broad.mit.edu	37	14	57268851	57268852	+	Frame_Shift_Ins	INS	-	GATG	GATG			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr14:57268851_57268852insGATG	uc001xcq.3	-	4	769_770	c.495_496insCATC	c.(493-498)atctccfs	p.I165fs	OTX2_uc001xcp.3_Frame_Shift_Ins_p.I157fs|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Frame_Shift_Ins_p.I157fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	157					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.S164S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACAGTGGGGAGATGGAAGCTG	0.545													---	77	---	---	20	---					
CHD9	80205	broad.mit.edu	37	16	53338468	53338470	+	In_Frame_Del	DEL	TCC	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr16:53338468_53338470delTCC	uc002ehb.3	+	29	6714_6716	c.6550_6552delTCC	c.(6550-6552)tccdel	p.S2193del	CHD9_uc002egy.3_In_Frame_Del_p.S2193del|CHD9_uc002ehc.3_In_Frame_Del_p.S2193del|CHD9_uc002ehf.3_In_Frame_Del_p.S1307del|CHD9_uc002ehg.2_In_Frame_Del_p.S1307del|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2193	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ctccacctcttcctcctcctcct	0.419													---	4	---	---	2	---					
LOC646862	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chr19:58907569_58907571delAGG	uc021vcz.1	+	0	113_115	c.113_115delAGG	c.(112-117)caggag>cag	p.E45del		NM_001195135	NP_001182064			Homo sapiens uncharacterized LOC646862 (LOC646862), mRNA.																		GGGGAAGACCaggaggaggagga	0.724													---	4	---	---	2	---					
DDX3X	1654	broad.mit.edu	37	X	41202462	41202468	+	Splice_Site	DEL	TTAACAG	-	-			TCGA-DA-A1I0-06A-11D-A20D-08	TCGA-DA-A1I0-10B-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0e033bc-8e97-4322-b3b1-8626f1e2449b	74f05e46-0aeb-4a0e-924f-546b009bf0a3	g.chrX:41202462_41202468delTTAACAG	uc004dfe.3	+	7	1399	c.544_splice	c.e7-1	p.F182_splice	DDX3X_uc010nhf.1_Splice_Site_p.F166_splice|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Splice_Site_p.F182_splice|DDX3X_uc011mkq.2_Splice_Site_p.F166_splice|DDX3X_uc011mkr.2_Splice_Site_p.F182_splice|DDX3X_uc004dfg.3_Splice_Site|DDX3X_uc011mkt.1_Splice_Site	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	182					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATTGAATTTCTTAACAGTTCAGTGATG	0.367										HNSCC(61;0.18)			---	25	---	---	9	---